Artykuły w czasopismach: „Facial dysmorphy”

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Labrune, P., J. C. Lange, P. Bedossa, J. L. Chaussain i M. Odievre. "Congenital Hepatic Fibrosis, Cystic Kidneys, Mental Retardation, and Facial Dysmorphy". Journal of Pediatric Gastroenterology and Nutrition 10, nr 4 (maj 1990): 540–43. http://dx.doi.org/10.1097/00005176-199005000-00019.

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Labrune, P., J. C. Lange, P. Bedossa, J. L. Chaussain i M. Odievre. "Congenital Hepatic Fibrosis, Cystic Kidneys, Mental Retardation, and Facial Dysmorphy". Journal of Pediatric Gastroenterology and Nutrition 10, nr 4 (maj 1990): 540–43. http://dx.doi.org/10.1002/j.1536-4801.1990.tb10041.x.

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SummaryThis report concerns a boy with congenital hepatic fibrosis, cystic kidneys, mental retardation, and minor dysmorphic features. These symptoms have rarely been reported before and indicate that congenital hepatic fibrosis may not be a single clinical entity.

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Cuturilo, Goran, Igor Stefanovic, Ida Jovanovic, Slobodanka Miletic-Grkovic i Ivana Novakovic. "Mowat-Wilson syndrome: A case report". Srpski arhiv za celokupno lekarstvo 137, nr 7-8 (2009): 426–29. http://dx.doi.org/10.2298/sarh0908426c.

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Introduction. Mowat-Wilson syndrome (MWS) is characterised by severe mental retardation and multiple congenital anomalies. Key features for diagnosis are specific facial dysmorphism with uplifted ear lobes and Hirschsprung's disease. Ganglionic disorders of the colon, both the number of ganglion cells and the length of the aganglionic segment vary significantly in these patients. The disease is caused by ZFHX1B gene mutation. The management of MWS is symptomatic. Case outline. We report a four-year old boy with mental retardation, specific facial dysmorphy and multiple anomalies. During prenatal follow-up intrauterine growth retardation was revealed. Karyotype was normal. Clinical findings showed that growth and mental retardation, gastrointestinal disturbance and heart defect were predominant. A gastrostoma was inserted. Hypoganglionosis of the colon caused severe obstipation. He had a severe stenosis of the pulmonary artery and was a candidate for cardiac surgery. There were several attempts to establish diagnosis, but so far, without results. Conclusion. Hirschsprung's disease/hypoganglionosis of the colon associated with other congenital anomalies or mental retardation require evaluation for dysmorphic syndromes. One of them is MWS, presented in this report.

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Labrune, Philippe. "Absence of specific facial dysmorphy in glycogen storage disease type III". Clinical Dysmorphology 12, nr 3 (lipiec 2003): 213. http://dx.doi.org/10.1097/00019605-200307000-00017.

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Labrune, Philippe. "Absence of specific facial dysmorphy in glycogen storage disease type III". Clinical Dysmorphology 12, nr 3 (lipiec 2003): 213. http://dx.doi.org/10.1097/01.mcd.0000052342.43310.35.

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Chabchoub, E., J. R. Vermeesch, T. de Ravel, P. de Cock i J.-P. Fryns. "The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15". Journal of Medical Genetics 45, nr 3 (22.10.2007): 189–92. http://dx.doi.org/10.1136/jmg.2007.056176.

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Joksic, I., G. Cuturilo, A. Jurisic, S. Djuricic, B. Peterlin, M. Mijovic, Orlic N. Karadzov, A. Egic i Z. Milovanovic. "Otopalatodigital syndrome type I: novel characteristics and prenatal manifestations in two siblings". Balkan Journal of Medical Genetics 22, nr 2 (21.12.2019): 83–88. http://dx.doi.org/10.2478/bjmg-2019-0024.

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AbstractOtopalatodigital spectrum disorder (OPDSD) is rare group of X-linked disorders caused by mutations in the filamin A (FLNA) gene. It is characterized by skeletal dysplasia of variable severity and different extra skeletal manifestations. Its presentation in the fetal period is quite unspecific, so diagnosis is usually made after birth. We present prenatal ultrasonography and postmortem findings that led us to a diagnosis of the mildest form of OPDSD (OPD type I) in two consecutive pregnancies. This is the first report on prenatal diagnosis (PND) of OPD type I. Affected fetuses showed facial dysmorphy (hypertelorism, micrognathia, cleft palate) and digital anomalies, features typical of OPD type I. In addition, microphtalmia and early neonatal death due to severe respiratory distress syndrome are described as a novel characteristics of the disorder. Clinical exome sequencing revealed a hemizygous missense pathogenic variant in the FLNA gene (NM_ 001110556.1: c.620C>T). We suggest that the presence of hypertelorism, micrognathia, digital anomalies on prenatal ultrasound examination should alert suspicion to OPDSD. Detailed clinical examination of mother and other female relatives is of great importance in establishing definitive diagnosis of OPD type I.

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Chafai Elalaoui, Siham, Wiam Smaili, Julien Van-Gils, Patricia Fergelot, Ilham Ratbi, Mariam Tajir, Benoit Arveiler, Didier Lacombe i Abdelaziz Sefiani. "Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome". African Health Sciences 21, nr 2 (2.08.2021): 960–67. http://dx.doi.org/10.4314/ahs.v21i2.58.

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Background: Rubinstein-Taybi syndrome (RSTS; OMIM 180849) is a rare autosomal dominant developmental disorder with an estimated prevalence of one case per 125,000 live births. RSTS is characterized by typical face, broad thumbs and halluces, short stature, and intellectual disability. Facial dysmorphy is characteristic with microcephaly, low frontal hairline, arched eyebrows, long eyelashes, convex profile of nose, narrow palate, and micrognathia. RSTS is mainly due to mutations or microdeletions of the CREBBP gene (about 60%) and more rarely of the EP300 gene (8%). Objective: Clinical description and identification of mutations of patients with Rubinstein Taybi syndrome. Methods: PCR and direct sequencing of CREBBP gene. Results: We report here, the clinical and molecular data of a series of six Moroccan patients with a phenotype of RSTS. The molecular study of the major gene CREBBP (by Sanger Sequencing followed by CGH array, if sequence normal) revealed point mutations in five patients. For the sixth patient, CGH array revealed a microdeletion carrying the CREBBP gene. Through this work, we emphasize the importance of clinical expertise in the diagnosis, management and genetic counseling in Rubinstein Taybi syndrome. Keywords: Rubinstein Taybi syndrome; CREBBP gene; mutation; Moroccan.

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Türk, Cemre Büşra, Fatima N. Mirza i George Kroumpouzos. "A Screening Proposal for Zoom Dysmorphia in Virtual Settings". Life 13, nr 8 (2.08.2023): 1678. http://dx.doi.org/10.3390/life13081678.

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Zoom dysmorphia (ZD) is a facial dysmorphia that is triggered or aggravated by frequent virtual meetings. The frequent use of videoconferencing platforms has been linked to a distorted perception of facial images as individuals have an increased awareness of their appearance, given constant video feedback. As a result, dysmorphic concerns can develop. It is crucial to identify ZD as this condition interferes with an individual’s life and can trigger or aggravate body dysmorphic disorder (BDD). A standardized approach for screening ZD in non-psychiatric settings has yet to be defined. We discuss the features of ZD and the challenges of screening for ZD in a virtual setting. To facilitate the recognition of ZD in telehealth consultations, we propose a comprehensive ZD screening questionnaire that includes questions related to typical ZD features and a BDD-focused question. The questionnaire is concise and allows the identification of individuals with a potential ZD. A BDD assessment in such individuals should follow.

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Boztug, Kaan, Philip S. Rosenberg, Marie Böhm, Thomas Moulton, Julie Curtin, Nima Rezaei, John Corns i in. "Extended Molecular and Clinical Phenotype of Human G6PC3 Deficiency." Blood 116, nr 21 (19.11.2010): 1495. http://dx.doi.org/10.1182/blood.v116.21.1495.1495.

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Abstract Abstract 1495 Severe congenital neutropenia (SCN) is a heterogenous group of disorders characterized by an increased susceptibility to bacterial infections. Recently, our discovery of G6PC3 deficiency in 12 patients with SCN and various developmental features highlighted the role of glucose metabolism in the viability of neutrophil granulocytes. To further delineate the molecular and clinical phenotype of this complex syndrome, we analyzed a second cohort of 23 SCN patients referred to us for molecular analysis of G6PC3 mutations. All patients had at least one syndromic feature in addition to congenital neutropenia such as such as congenital heart defects, urogenital malformations or increased venous marking. Among these 23 patients, we identified 14 patients with biallelic mutations in G6PC3. 10 patients had novel mutations in G6PC3. A comprehensive review of the clinical characteristics of these patients underlined the phenotypic variability of G6PC3 deficiency. In addition to known manifestations including cardiac (14/14) and urogenital malformations such as cryptorchidism (3/14), novel features such as facial dysmorphy (11/14) or malformation of the outer genitalia (4/14) were found. No obvious genotype-phenotype correlations could be established. All patients except one had a good response to treatment with G-CSF characterized by increased peripheral neutrophil counts and decreased frequency and severity of infections. To assess the risk of leukemogenesis, we performed a meta-analysis comparing the 14 G6PC3-deficient SCN patients combined with the 12 patients in the original publication with a cohort of 374 patients SCN patients bearing mutations in ELANE or HAX1, in which 61 developed MDS or AML. The rate of MDS/AML was found to be significantly lower in G6PC3-deficient patients (p=0.02). Our analysis suggests that the risk of transition to MDS/AML may be lower in G6PC3-deficient SCN compared with other genetically defined SCN subgroups. Disclosures: No relevant conflicts of interest to declare.

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Schittkowski, Michael P., Sabine Naxer, Mohamed Elabbasy, Leonie Herholz, Vivian Breitling, Alan Finglas, Jutta Gärtner i Lars Schlotawa. "Multiple Sulfatase Deficiency from an Ophthalmologist’s Perspective—Case Report and Literature Review". Children 10, nr 3 (21.03.2023): 595. http://dx.doi.org/10.3390/children10030595.

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Multiple sulfatase deficiency (MSD) is an extremely rare autosomal recessively inherited disease with a prevalence of 1:500.000 caused by mutations on the sulfatase-modifying-Factor 1 gene (SUMF1). MSD is most specifically characterised by a combination of developmentally retarded psychomotoric functions, neurodegeneration that entails the loss of many already acquired abilities, and by ichthyosis. Other symptoms include those associated with mucopolysaccharidosis, i.e., facial dysmorphy, dwarfism, and hepatosplenomegaly. In 50–75% of all MSD-affected patients, functional or structural ocular damage is likely. MSD seldom affects the anterior segment of the eye. The main pathology these patients present is a highly conspicuous tapetoretinal degeneration, similar to severe Retinitis pigmentosa, that leads to blindness at an early age. An initially five-year-old boy with MSD, genetically verified at his first examination in our opthalmology department (SUMF1 mutations c.776A>T, p.Asn259Ile; c.797A>T, p.Pro266Leu; c.836A>T, p.Ala279Val), and a 4, 5 year regular follow-up are described. The patient had some visual potential (“tunnel view”), which deteriorated dramatically after his fifth birthday. We observed no evidence of worsening retinal involvement in this patient in spite of his progressively worsening clinical symptoms, extending to total blindness/no light perception. OCT revealed that the outer retinal layers containing photoreceptors were diseased; the ellipsoid zone was only partially discernible and the outer nuclear layer appeared to be thinned out. The inner nuclear layer, ganglion cell layer, and retinal nerve fibre layer were indistinguishable. These anomalies are indicative of a severe pathology within the retina’s inner layers. Characteristic anomalies in the fundus should stimulate clinicians to suspect a case of MSD in their differential diagnosis, and thus to order thorough genetic and paediatric diagnostics.

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Milska, Katarzyna A., Agata Rudnik, Arkadiusz Mański i Jolanta Wierzba. "MEDICAL STUDENTS’ KNOWLEDGE AND SENSITIVITY TO DYSMORPHIC FEATURES OF A CHILD WITH CRANIOFACIAL MICROSOMIA (CFM)". Acta Neuropsychologica 18, nr 4 (15.10.2020): 425–36. http://dx.doi.org/10.5604/01.3001.0014.4985.

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The aim of the study was to examine the level of knowledge and sensitivity to dysmorphic features in a child with facial and body dysmorphia on the part of students of medicine and dentistry. We tested 70 students of medicine and 70 students of dentistry. A photograph of a child with craniofacial microsomia (CFM)was shown to all the tested students. Their task was to detect and name those facial deformities and describe the child in terms of selected features not related to the child’s health condition. As a tool was used the Overgeneralization Effect Scale and a questionnaire designed by the author relating to facial deformities. Significant differences were observed in the level of knowledge and sensitivity to dysmorphic features between students of medicine and dentistry. Future dentists detected more dysmorphic features in the face of the photographed child when compared to students of medicine. Interestingly, this sensitivity to abnormalities was found to noticeably increase with each subsequent year of study for dentistry students, while the opposite was observed for the stu dents of medicine. Importantly, a relationship was observed be tween the sensitivity to dysmorphic features and the general evaluation of the child in terms of non-medical aspects by the group of dentistry students. With the increase in the students’ skills to recognize dysmorphic features, the overall evaluation of the child tended to decrease. The results obtained indicate that the skills related to recognizing dysmorphic features are better in students of dentistry than in students of medicine. The sensitivity to abnormalities evidently increase with each subsequent year of study for dentistry students, while the opposite was observed for medical students.

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Medvedev, V., i V. Frolova. "Causeless appearance discontentment in patients of plastic surgeons and cosmetologists: Risk factors and patterns of dynamics". European Psychiatry 41, S1 (kwiecień 2017): s497. http://dx.doi.org/10.1016/j.eurpsy.2017.01.617.

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IntroductionThough phenomenon of dysmorphic disorder has been studied extensively clinical dynamical characteristics of this disorder are still being investigated.Aim of this study was to evaluate patterns of dynamics and risk factors of body dysmorphic disorder in patients of plastic surgeons and cosmetologists.MethodsWe included adult patients of Maxillofacial Surgery and Cosmetology departments of Moscow State University of Medicine and Dentistry (from January 2010 to May 2016) with unconfirmed “facial deformity” diagnosed with dysmorphic disorder (F45.2 and F22.88 according to ICD-10). The study used clinical psychopathological method with follow-up period 1–3 years. Data from clinical psychopathological assessment were processed using correlation analysis and non-lineal regression analysis by means of logistic regression method.ResultsStudy sample consisted of 103 patients (78.6% female; mean age 33.4 ± 4.7 years). Statistically significant chronobiological (age, hormone fluctuations, genesial cycle) and psychosocial (financial changes, forced separation, bereavement, loss of job, reduction of social activity, conflict situation, sexual dysfunction, violation of law, diagnosing of somatic disease) risk factors for dysmorphia in different life periods have been established. Strong correlations were found between dysmorphic disorder heterogenic clinical picture (overvalued–33%, affective–24.3%, hypochondric–23.3%, obsessive-compulsive–10.7%, delusional–8.7%) and patterns of dynamics (phasic–41.7%, recurrent–33%, chronic–25.3%). Our data suggest that dysmorphia manifests in any age group and in 74.7% cases is not continuous.ConclusionOur findings allow to conduct focused diagnostic search, prophylactic psychotherapeutic interventions and early psychopharmacological treatment in individuals with identified risk factors for dysmorphic disorder.Disclosure of interestThe authors have not supplied their declaration of competing interest.

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Bechakh, Islam. "Syndrome de Stickler : une observation clinique". Annales Africaines de Medecine 15, nr 2 (30.04.2022): e4626-e4628. http://dx.doi.org/10.4314/aamed.v15i2.13.

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Stickler syndrome, also known as hereditary arthroophtalmopathy, is a dominantly inherited polymarformative syndrome characterized by clinical signs as follows: i) polyepiphyseal dysplasia that can lead to early arthrosis, ii) bilateral myopia that is not very progressive but can lead to retinal detachment, and iii) facial dysmorphia that may improve with age. This syndrome may include severe orofacial abnormalities such as Pierre Robin syndrome. We report the case of a 14-year-old child diagnosed with an incomplete form of the syndrome but who fulfilled the diagnostic criteria of this syndrome with "ophthalmological manifestations" in the foreground. The surgical management of this case resulted in a failure of retinal reapplication despite the temporal retinectomy performed. This observation illustrates an exceptional etiology of retinal detachment, represented by an osteoarticular polymalformative syndrome, revealed by an extra-articular manifestation, which underscore the whole severity of this disease. Le syndrome de Stickler, appelé aussi arthro-ophtalmopathie héréditaire, est un syndrome polymarformatif héréditaire de transmission dominante, caractérisé par une dysplasie poly-épiphysaire pouvant entraîner des arthroses précoces, une myopie bilatérale peu évolutive mais susceptible d'entraîner un décollement rétinien, et une dysmorphie faciale pouvant s'atténuer avec l'âge. Ce syndrome peut comporter des anomalies oro-faciales sévères à type de syndrome de Pierre Robin. Nous rapportons le cas d’un enfant de 14 ans diagnostiqué d’une forme incomplète mais qui remplit les critères diagnostiques de ce syndrome avec comme au premier plan « les manifestations ophtalmologiques » dont la prise en charge chirurgicale s’est soldée par un échec de la réapplication de la rétine malgré la rétinectomie temporale réalisée. Cette observation illustre une étiologie exceptionnelle du décollement de rétine, représentée par un syndrome polymalformatif ostéo-articulaire, révélé par une manifestation extra-articulaire qui peut constituer toute la gravité de cette maladie.

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Boscherini, Brunetto, Marco Cappa i Chiara Minotti. "Accelerazione improvvisa dell’età ossea nel bambino prepubere. Quali le possibili cause?" QUADERNI ACP 30, nr 6 (2023): 268. http://dx.doi.org/10.53141/qacp.2023.268-270.

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George is referred at age 6 years 6 months from family pediatrician to a pediatric endocrinologist for poor statural growth and some facial dysmorphic notes. Second child of non consanguineous parents. Older sister is in good health. Father 177 cm tall, mother 161 cm, menarche 11 1/2 years. Genetic target cm 175.5 (50° pc). No major pathologies in family history. Pregnancy passed regularly, induced delivery at 39 weeks due to fetal distress; neonatal period progressed without complications. At birth kg 2650, cm 49. Head circumference unknown. According to the mother, growth in the first years of life was regular. Modest delay in psychomotor development: first words after one year, independent walking at 17 months. He is followed in Child Neuropsychiatry for “developmental delay and mild intellectual disability (IQ :63) and behavioral problems” and is undergoing psycho-motor physiotherapy treatment. He is also being followed in Broncho Pneumology for episodes of bronchial asthma and by ophthalmologists for modest strabismus. The parents report that George, seen at age 5 years and 6 months, had a stature of 101.9 cm (3° pc), a weight of 17.5 kg, and a bone age 4 years and 6 months. Given the dysmorphic facial notes, two geneticists had been consulted who did not make a diagnostic suspicion. CGH array was negative. On objective examination (6 years and 6 months), general and nutritional conditions are good, preserved limb/trunk ratio. Some modest facial dysmorphia, mild strabismus and modest delay in cognitive development are noted. Examination of the various organs and apparatuses is negative. Height 107 cm (3° pc, 10 cm below genetic target), weight 21 kg, BMI 15 (25° pc). Bone age found to be 5 1/2 years (1 year below chronological age). The pediatric endocrinologist decides to recheck statural growth at 6 to 12 months. In fact, the child is revisited at ages 8 and 4 months. The period between the two visits has progressed without any particular events. Dysmorphia persists, regular trunk/limb ratio, prepubertal genitalia. Height 123 cm (10° pc, within genetic target), weight 25 kg, BMI 16.6 (25°-50° pc), head circumference 52.5 cm (50° pc). Bone age: 10 years, almost 2 years higher than chronological age. Conclusions: stature at low limits of normal, some dysmorphic notes, modest psychomotor and cognitive delay, rapid acceleration of bone age, which at age 5 ½ years and at 6 years 6/12) 1 year lower than chronological became at 8 years 4 months almost 2 years higher resulting in worsening prognosis of final stature (see Figure 1).

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Thomas, Christopher S. "A study of facial dysmorphophobia". Psychiatric Bulletin 19, nr 12 (grudzień 1995): 736–39. http://dx.doi.org/10.1192/pb.19.12.736.

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The psychopathology of 20 subjects who presented to psychiatrists with facial dysmorphophobia was examined. Seven had body dysmorphic disorder and 13 had dysmorphophobic symptoms secondary to an underlying psychiatric disorder (usually depression). The body dysmorphic group had a younger age of onset and overvalued ideas about their appearance. In both groups there was a high proportion of associated personality disorder, usually of the anxious (avoidant) type.

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Li, Dong, Qin Wang, Naihua N. Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy, Melanie Brugger i in. "Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features". Science Advances 7, nr 20 (maj 2021): eabf2066. http://dx.doi.org/10.1126/sciadv.abf2066.

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Intellectual disability encompasses a wide spectrum of neurodevelopmental disorders, with many linked genetic loci. However, the underlying molecular mechanism for more than 50% of the patients remains elusive. We describe pathogenic variants in SMARCA5, encoding the ATPase motor of the ISWI chromatin remodeler, as a cause of a previously unidentified neurodevelopmental disorder, identifying 12 individuals with de novo or dominantly segregating rare heterozygous variants. Accompanying phenotypes include mild developmental delay, frequent postnatal short stature and microcephaly, and recurrent dysmorphic features. Loss of function of the SMARCA5 Drosophila ortholog Iswi led to smaller body size, reduced sensory dendrite complexity, and tiling defects in larvae. In adult flies, Iswi neural knockdown caused decreased brain size, aberrant mushroom body morphology, and abnormal locomotor function. Iswi loss of function was rescued by wild-type but not mutant SMARCA5. Our results demonstrate that SMARCA5 pathogenic variants cause a neurodevelopmental syndrome with mild facial dysmorphia.

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Al-Mosawi, Aamir Jalal. "Psychomotor Retardation, Low Set Ears, Retrognathia, Facial Dysmorphism and Schizencephaly: A New Dysmorphic Syndrome". Journal of Clinical Research and Reports 2, nr 3 (5.02.2020): 01–02. http://dx.doi.org/10.31579/2690-1919/021.

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Background: Schizencephaly is a rare primary congenital brain defect of heterogeneous nature resulting from abnormal morphogenesis with a very early disruption of the grey matter migration during embryogenesis. Braga et al (2018) reviewed 156 articles including 734 patients with schizencephaly, and none of them had facial dysmorphism, low set ears or micrognathia Patients and methods A dysmorphic male infant who was referred to the neuropsychiatric consultation clinic of the Children Teaching hospital of Baghdad medical city was studied. Results Four month male infant presented with psychomotor retardation with no interaction with the mother and no recognition of her face. He had low set ears, retrognathia, and facial dysmorphism with narrow and upslanting palpebral fissures and thin upper lips. Family history was negative for a similar condition. Brain CT-scan showed open limb bilateral schizencephaly and karyotype showed normal finding. Conclusion: A new dysmorphic syndrome associated with schizencephaly, facial dysmorphism, low set ears and micrognathia is reported.

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Кожанова, Т. В., С. С. Жилина, Т. И. Мещерякова, Е. Г. Лукьянова, К. В. Осипова, С. О. Айвазян, Н. Н. Заваденко i А. Г. Притыко. "Helsmoortel-van der Aa syndrome syndrome in a patient with epilepsy, developmental delay, intellectual disability and autism spectrum disorder". Nauchno-prakticheskii zhurnal «Medicinskaia genetika», nr 11(220) (30.11.2020): 47–53. http://dx.doi.org/10.25557/2073-7998.2020.11.47-53.

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Синдром Хельсмуртел-Ван дер Аа (OMIM #615873) - аутосомно-доминантная умственная отсталость, тип 28, которая характеризуется наличием черепно-лицевых дисморфий, нарушением поведения и расстройствами аутистического спектра. Развитие редкого синдрома связано с мутациями в гене ADNP. В статье представляется клиническое наблюдение пациентки с задержкой психомоторного и речевого развития, специфическими лицевыми дисморфиями, нарушением поведения и выявленной мутацией в гене ADNP. При проведении таргетного экзомного секвенирования выявлен ранее неописанный вариант нуклеотидной последовательности в гене ADNP (p.Ala1017fs). Мутации в гене ADNP в гетерозиготном состоянии описаны у пациентов с синдромом Хельсмуртел-Ван дер Аа (Helsmoortel-van der Aa syndrome; MIM:#615873). Мутации в гене ADNP могут быть генетической причиной расстройств аутистического спектра у 0,17% пациентов. Целесообразно при интерпретации данных NGS у пациентов с эпилептической энцефалопатией, расстройством аутистического спектра и характерным фенотипом учитывать, что ген ADNP относится к ключевым генам эмбрионального развития нервной системы. Helsmoortel-van der Aa syndrome (OMIM # 615873) is an autosomal dominant mental retardation 28 type, which is characterized by dysmorphic craniofacial features, impaired behavior and autism spectrum disorders. The development of a rare syndrome is associated with mutations in the ADNP gene. The clinical case is presented in patient with a development delay (psychomotor and speech), characteristic facial dysmorphia, impaired behavior and a detected mutation in the ADNP gene. Previously undescribed variant of the nucleotide sequence in the ADNP gene (p.Ala1017fs) was detected by targeted exome sequencing. Heterozygous mutations in the ADNP gene have been described in patients with Helsmoortel-van der Aa syndrome (MIM: # 615873). Mutations in the ADNP gene can be a genetic cause of autism spectrum disorders in 0,17% of patients. It is advisable to take into account that the ADNP gene is one of the key genes for embryonic neurodevelopment when interpreting NGS data in patients with epileptic encephalopathy, autism spectrum disorder and characteristic facial dysmorphia.

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Bahlol, Fahem Alwan, Mushtaq Talip Hashim, Maysaa Ali Abdul Khaleq i Ahmed Abed Marzook. "PREVALENCE OF BODY DYSMORPHIC DISORDER AMONG ATTENDANCES SEEKING FACIAL COSMETIC PROCEDURES IN BAGHDAD". Polski Merkuriusz Lekarski 51, nr 5 (2023): 511–20. http://dx.doi.org/10.36740/merkur202305110.

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Aim: To find out the prevalence of body dysmorphic disorder among patients seeking facial cosmetic procedures, find out association of social demographic (age, gender, occupation, marital status, friends relationship, and dating status) ampatientsient with body dysmorphic disorder. Materials and Methods: A cross-sectional study was done on a sample of 100 patients from Al-waste Hospital and Ghazy Al-Hariri Hospital for surgical specialties in Baghdad by using a body dysmorphic disorder questionnaire to diagnose a probable case and then a semi-structured questionnaire based on DSM5 criteria to diagnose body dysmorphic disorder during the period extended from beginning of January 2019 to the end of April 2019. Results: The chi-square test proved the association between female gender and body dysmorphic disorder is significant P=0.026. Significant associations were also noticed between single patients and body dysmorphic disorder 76.8% in comparison with married 37.8, and divorced or widowed 42.9% (P=0.001). It was found that 68.6% of unemployed patients think that they need to correct their body dysmorphic disorder so they attended the hospital while only 40% of employed persons did so P=0.008. The mean age of patients exposed to a second operation was significantly higher than the mean age of other patients P=0.022. Conclusions: High prevalence of body dysmorphic disorder among patients seeking plastic surgery which is about 60%. Body dysmorphic disorder is more common among single and unemployment and among young adults and gender female. There is no significant association between the mean age of male and female patients of body dysmorphic disorder group.

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Grace, Sally A., Wei Lin Toh, Ben Buchanan, David J. Castle i Susan L. Rossell. "Impaired Recognition of Negative Facial Emotions in Body Dysmorphic Disorder". Journal of the International Neuropsychological Society 25, nr 08 (17.05.2019): 884–89. http://dx.doi.org/10.1017/s1355617719000419.

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Abstract Objectives: Patients with body dysmorphic disorder (BDD) have difficulty in recognising facial emotions, and there is evidence to suggest that there is a specific deficit in identifying negative facial emotions, such as sadness and anger. Methods: This study investigated facial emotion recognition in 19 individuals with BDD compared with 21 healthy control participants who completed a facial emotion recognition task, in which they were asked to identify emotional expressions portrayed in neutral, happy, sad, fearful, or angry faces. Results: Compared to the healthy control participants, the BDD patients were generally less accurate in identifying all facial emotions but showed specific deficits for negative emotions. The BDD group made significantly more errors when identifying neutral, angry, and sad faces than healthy controls; and were significantly slower at identifying neutral, angry, and happy faces. Conclusions: These findings add to previous face-processing literature in BDD, suggesting deficits in identifying negative facial emotions. There are treatment implications as future interventions would do well to target such deficits.

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Lacombe, D., A. Lévy, AM Frances, J. Battin i N. Philip. "Dysmorphie faciale et microdélétion 22q11". Archives de Pédiatrie 2, nr 4 (kwiecień 1995): 389. http://dx.doi.org/10.1016/0929-693x(95)90176-4.

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Silva, J. Arturo, Gregory B. Leong, Sammy Saab i David B. Wine. "Misidentification Syndrome, Facial Misrecognition, and Dysmorphic Symptoms". Psychosomatics 33, nr 4 (listopad 1992): 471–72. http://dx.doi.org/10.1016/s0033-3182(92)71959-8.

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Alaoui, A. Maliki, O. Hdioud, A. Ayad i A. Benyass. "Cayler Cardio-Facial Syndrome: A Rare Case Report". Scholars Journal of Medical Case Reports 10, nr 6 (10.06.2022): 555–57. http://dx.doi.org/10.36347/sjmcr.2022.v10i06.014.

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Background: Cayler cardio-facial syndrome is a rare syndrome characterised by asymmetric crying facies with congenital heart defects. Syndrome may be associated with other dysmorphic features and systemic anomalies. Case Report: We report the clinical observation of a 04 years old boy presenting with Cayler cardio-facial syndrome.

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Akay, Ela M., Ian S. Schofield, Ming H. Lai i Rhys H. Thomas. "WED 202 Lamb-shaffer syndrome: importance of snp array in diagnosing neurodevelopmental syndromes". Journal of Neurology, Neurosurgery & Psychiatry 89, nr 10 (13.09.2018): A29.4—A30. http://dx.doi.org/10.1136/jnnp-2018-abn.102.

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We describe the seizure phenotype of a 26 year old lady who presented with a probable photic-induced convulsion on a background of mild intellectual disability, facial dysmorphia, fused cervical vertebrae and ventricular septal defect. There was no prior history of seizures.Routine EEG was polyrhythmic with a prominent photoparoxysmal response at 14 Hz and 40 Hz. CT head was normal. A SNP array demonstrated a rare 51 kb deletion at 12 p12.1 which disrupts the SOX5 gene.SOX5 is a developmentally important gene encoding a transcription factor that plays a role in multiple developmental pathways including of the nervous system. Loss of function of this gene is associated with Lamb-Shaffer syndrome, first characterised in 2012 with global developmental delay, intellectual disability, mild dysmorphic facies, language impairment and variable skeletal abnormalities.3 of the original cohort of 16 patients described experienced seizures and the nature of their epilepsy was not further defined. Only a further 7 cases have been reported to date, none of whom experienced seizures. Our case helps to broaden the phenotype of Lamb-Shaffer syndrome, highlights the importance of looking for copy number variation and poses questions regarding the neurobiology of photo-sensitivity.

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Okutucu, Fatma Tuygar. "DiGeorge Syndrome With Atypical Psychotic Symptoms: The Need for a Multidisciplinary Methodology". Psychiatric Annals 53, nr 9 (wrzesień 2023): 432–35. http://dx.doi.org/10.3928/00485713-20230824-02.

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DiGeorge syndrome (DGS), known as 22q11.2 deletion syndrome or velocardiofacial syndrome, is one of the most common microdeletion syndromes in humans. Developmental delay, intellectual disability, congenital cardiac and gross vessel anomalies, hypocalcemia, and hearing loss may be seen and characterized by dysmorphic facial features. The syndrome has high risk for psychiatric disorders, specifically intellectual disability and psychotic disorders. Dysmorphic features may be overlooked and the diagnosis may be delayed for years. We explore a case of DGS with intellectual disability and atypical psychotic symptoms. A 19-year-old female patient had atypical psychotic symptoms, dysmorphic facial features, and unilateral hearing loss. Intellectual disability was detected in the IQ test evaluation. A detailed investigation and genetic evaluation resulted in a diagnosis of DGS. This case report highlights the variable clinical presentation of DGS in each patient and the need for a multidisciplinary methodology to diagnose and treat it. [ Psychiatr Ann . 2023;53(9):432–435.]

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Pooja Gaur. "A Case Report of Apert Syndrome in a Fifty-Eight Year Old Female". International Healthcare Research Journal 3, nr 11 (20.02.2020): 352–54. http://dx.doi.org/10.26440/ihrj/0311.02318.

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Defined as a rare type I acrocephalosyndactyly syndrome which is clinically characterized by dysmorphic facial features, craniosynostosis, and severe syndactyly of the hands and feet, Apert Syndrome represents an autosomal dominant inheritance which occurs due to the gene mutations in the receptors of the fibroblast growth factor. Oral lesions include tooth crowding, reduction in the size of the maxilla, impacted teeth, anterior open-bite, ectopic eruption, delayed eruption, thick gingiva and supernumerary teeth. The present case report describes a 58 year old female patient reported with the features of Apert’s syndrome such as dysmorphic facial features, occular anomalies, syndactyly and oral features. The case was referred to a specialized centre of clinical care for further treatment.

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Prasad, Nishi, Aditi Dubey i Kavita Kumar. "Spectrum of ocular manifestations in apert syndrome". IP International Journal of Ocular Oncology and Oculoplasty 8, nr 4 (15.02.2023): 280–82. http://dx.doi.org/10.18231/j.ijooo.2022.062.

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Apert syndrome is a congenital type 1 acrocephalosyndactyly characterized by craniosynostosis, dysmorphic facial features and symmetrical syndactyly. There is premature fusion of cranial sutures which leads to restriction of intracranial and orbital space expansion giving characteristic dysmorphic facial appearance. We are reporting two cases of Apert syndrome of different age groups from ophthalmic point of view, and with different sets of ocular manifestation. Of the two cases, the one who presented early had a better visual prognosis. Apert Syndrome has a social stigma and the patients often suffers social and psychological disturbances. Patient counselling, timely management by multidisciplinary approach and regular follow ups are an important aspect which can offer a better quality of life.

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Zerktouni, I., N. Touil, O. Kacimi i N. Chikhaoui. "Cause inhabituelle de dysmorphie crânio-faciale". Feuillets de Radiologie 52, nr 5 (październik 2012): 278–82. http://dx.doi.org/10.1016/j.frad.2012.06.006.

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Zerktouni, I., N. Touil, O. Kacimi i N. Chikhaoui. "Cause inhabituelle de dysmorphie crânio-faciale". Feuillets de Radiologie 52, nr 5 (październik 2012): 299. http://dx.doi.org/10.1016/j.frad.2012.06.009.

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Arvio, Maria A., Maarit M. Peippo, Pekka J. Arvio i Helena A. K????ri??inen. "Dysmorphic facial features in aspartylglucosaminuria patients and carriers". Clinical Dysmorphology 13, nr 1 (styczeń 2004): 11–15. http://dx.doi.org/10.1097/00019605-200401000-00003.

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Prasanna, LC. "A Cranio-Facial Dysmorphic Foetus; A New Syndrome?" Journal of Nepal Paediatric Society 33, nr 2 (7.10.2013): 155–56. http://dx.doi.org/10.3126/jnps.v33i2.7672.

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Cranial Neural Crest (CNC) cells interact with and are consequently instructed by the pharyngeal endoderm, the branchial arch ectoderm, and the isthmic organizer at the midbrain– hindbrain boundary before giving rise to various types of tissues such as bone, cartilage, tooth, and cranial nerve ganglia in the craniofacial region. DOI: http://dx.doi.org/10.3126/jnps.v33i2.7672 J Nepal Paediatr Soc. 2013; 33(2):155-156

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Toh, Wei Lin, Sally A. Grace, Susan L. Rossell, David J. Castle i Andrea Phillipou. "Body parts of clinical concern in anorexia nervosa versus body dysmorphic disorder: a cross-diagnostic comparison". Australasian Psychiatry 28, nr 2 (1.04.2019): 134–39. http://dx.doi.org/10.1177/1039856219839477.

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Objectives: Anorexia nervosa and body dysmorphic disorder share a hallmark clinical feature of severe body image disturbance. This study aimed to document major demographic and clinical characteristics in anorexia nervosa versus body dysmorphic disorder, and it was the first to compare specific body parts related to body image dissatisfaction across these disorders directly. Methods: Anorexia nervosa ( n=26) and body dysmorphic disorder ( n=24) patients were administered a range of clinical measures, including key questions about the specificities of their body image concerns. Results: Results revealed increased psychiatric and personality co-morbidities in anorexia nervosa relative to body dysmorphic disorder. The anorexia nervosa group was mostly preoccupied with three body zones typically linked to weight concerns, whereas the body dysmorphic disorder group fixated on facial features, hair and skin. Conclusions: These findings may help inform differential diagnosis in complex cases and aid in the formulation of targeted interventions.

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Dutta, Atanu Kumar. "Variable expressivity of Malan syndrome". BMJ Case Reports 17, nr 10 (październik 2024): e260787. http://dx.doi.org/10.1136/bcr-2024-260787.

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We describe the family of a patient with developmental delay, macrocephaly, dysmorphic facial features and autism. His mother also shared similar facial features and macrocephaly but not his neurobehavioural issues. Subsequently, both the child and his mother were found to have a heterozygous frameshift variant NFIX: c.34_41dupGGGATACC. The child and his mother had many features consistent with a genetic diagnosis of Malan syndrome. Therefore, this family highlighted the variable expressivity of Malan syndrome.

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Stangier, Ulrich, Stefanie Adam-Schwebe, Thomas Müller i Manfred Wolter. "Discrimination of facial appearance stimuli in body dysmorphic disorder." Journal of Abnormal Psychology 117, nr 2 (2008): 435–43. http://dx.doi.org/10.1037/0021-843x.117.2.435.

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Reese, Hannah E., Richard J. McNally i Sabine Wilhelm. "Facial asymmetry detection in patients with body dysmorphic disorder". Behaviour Research and Therapy 48, nr 9 (wrzesień 2010): 936–40. http://dx.doi.org/10.1016/j.brat.2010.05.021.

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Vaisvilas, M., V. Dirse, B. Aleksiuniene, I. Tamuliene, L. Cimbalistiene, A. Utkus i J. Rascon. "Acute pre-B lymphoblastic leukemia and congenital anomalies in a child with a de novo 22q11.1q11.22 duplication". Balkan Journal of Medical Genetics 21, nr 1 (29.10.2018): 87–91. http://dx.doi.org/10.2478/bjmg-2018-0002.

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Abstract Microdeletions and microduplications are recurrent in the q11.2 region of chromosome 22. The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from severe intellectual disability, facial dysmorphism, heart defects, and urogenital abnormalities to very mild symptoms. Both benign and malignant hematological entities are rare. A male patient was diagnosed with mild facial dysmorphia, congenital heart anomalies shortly after birth and acute bowel obstruction due to malrotation of the intestine at the age of 3 years. A whole-genome single nucleotide polymorphism (SNP) array revealed a de novo 6.6 Mb duplication in the 22q11.1q11.22 chromosomal region. A year later, the patient was diagnosed with acute pre-B lymphoblastic leukemia (pre-B ALL). Five genes, CDC45, CLTCL1, DGCR2, GP1BB and SEPT5, in the 22q11.1q11.22 region are potentially responsible for cell cycle division. We hypothesized that dosage imbalance of genes implicated in the rearrangement could have disrupted the balance between cell growth and differentiation and played a role in the initiation of malignancy with a hyperdiploid leukemic clone, whereas over-expression of the TBX1 gene might have been responsible for congenital heart defects and mild facial dysmorphia.

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Yumul, Rhea Camille R., i Mary Anne D. Chiong. "Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant". Case Reports in Genetics 2022 (21.05.2022): 1–5. http://dx.doi.org/10.1155/2022/3388879.

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Rubinstein–Taybi syndrome (RSTS) is a rare genetic disorder characterized by dysmorphic facial features, broad thumbs and halluces, intellectual disability, and postnatal growth retardation. This report presents a male infant with microcephaly and characteristic facial features, namely, low anterior hairline, hirsutism, thin upper lip and micrognathia, broad thumbs and first toes, cryptorchidism, recurrent pneumonia, developmental delay, and growth retardation. Genetic testing showed a novel pathogenic variant in the CREBBP gene which is consistent with the clinical diagnosis of RSTS.

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Gunduz, Mehmet, i Ozlem Unal. "Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with PEX1 Gene Mutations". Case Reports in Pediatrics 2016 (2016): 1–5. http://dx.doi.org/10.1155/2016/5175709.

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Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction of peroxisomes. Dysmorphic features, neurological abnormalities, and hepatic dysfunction can be presenting signs of peroxisomal disorders. Here we presented dysmorphic facial features and other clinical characteristics in two patients with PEX1 gene mutation. Follow-up periods were 3.5 years and 1 year in the patients. Case I was one-year-old girl that presented with neurodevelopmental delay, hepatomegaly, bilateral hearing loss, and visual problems. Ophthalmologic examination suggested septooptic dysplasia. Cranial magnetic resonance imaging (MRI) showed nonspecific gliosis at subcortical and periventricular deep white matter. Case II was 2.5-year-old girl referred for investigation of global developmental delay and elevated liver enzymes. Ophthalmologic examination findings were consistent with bilateral nystagmus and retinitis pigmentosa. Cranial MRI was normal. Dysmorphic facial features including broad nasal root, low set ears, downward slanting eyes, downward slanting eyebrows, and epichantal folds were common findings in two patients. Molecular genetic analysis indicated homozygous novel IVS1-2A>G mutation in Case I and homozygous p.G843D (c.2528G>A) mutation in Case II in the PEX1 gene. Clinical findings and developmental prognosis vary in PEX1 gene mutation. Kabuki-like phenotype associated with liver pathology may indicate Zellweger spectrum disorders (ZSD).

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Akhter, Shohela, Mohammad Lmnul Islam, Hafiz Al Mamun i Shahana A. Rahman. "Silver-Russell syndrome". Bangabandhu Sheikh Mujib Medical University Journal 6, nr 2 (4.08.2016): 175. http://dx.doi.org/10.3329/bsmmuj.v6i2.29138.

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Silver-Russell syndrome is clinically and genetically a heterogeneous disorder. In most of the cases, etiology is unknown, only in 10% cases defect in chromosome 7 is identified. It bas distinctive facial features and asymmetric limbs. Most predominant symptom is growth failure. A case of Silver-Russell syndrome reported here who presented with growth failure, hemihypertrophy ofleft side oftbe body, dysmorphic facial profile and difficulty in speech. Counseling was done with the parents regarding the etiology, progression and outcome of the disease.

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Özsoy, Özlem, Tayfun Cinleti, Selcan Zeybek, Didem Soydemir, Gamze Sarıkaya Uzan, Çağatay Günay, Semra Hız Kurul i Uluç Yiş. "A novel DOCK7 variant as a rare reason for epileptic encephalopathy, cortical blindness, dysmorphic features: A case report and brief review of the literature". Neurology Asia 28, nr 2 (czerwiec 2023): 421–29. http://dx.doi.org/10.54029/2023exu.

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Early infantile epileptic encephalopathy 23 (EIEE23; OMIM #615859) is a rare autosomal recessive disorder. It is characterized by refractory seizures, multifocal epileptic activity on electroencephalography, psychomotor development delay, dysmorphic facial features and cortical blindness/visual impairment. DOCK7 is involved in intracellular signaling networks and plays a role in axon formation and neuronal polarization. Function loss of this gene has previously been described in the molecular etiology of EIEE23. Here, we report a boy with a pathogenic novel variant in the DOCK7 gene presenting with, infantile-onset epileptic encephalopathy, severe neurodevelopmental delay, dysmorphic facial features, cortical blindness as well as previously unreported minor dental and extremity anomalies. Few cases with DOCK7 mutations have been reported in the literature. Due to its high genetic heterogeneity and scarcity, it is extremely important to report a novel and specific mutations and their associated clinical phenotypes. Whole exome sequencing revealed a novel pathogenic homozygous frameshift variant which has not been reported (c.5669dup (p.Cys1891ValfsTer2) mutation in the exon 44 of DOCK7).

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Pachapure, Shaila Sanjay, Shriharsha Badiger, Satish Tadakanahalli, Elisa De Franco, Aishwarya Manthale i Vijay Kulkarni. "Neonatal diabetes mellitus with congenital hypothyroidism (NDH) syndrome caused by GLIS3 mutation: A case report and review of literature". Journal of Pediatric Endocrinology and Diabetes 2 (15.11.2022): 86–89. http://dx.doi.org/10.25259/jped_24_2022.

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Neonatal diabetes mellitus with congenital hypothyroidism (NDH) syndrome (OMIM: 610199) caused by GLIS3 gene mutations is a multisystem disorder. To date, only 23 cases of NDH syndrome have been reported worldwide. We report a child diagnosed on day 24 of life with neonatal diabetes, congenital hypothyroidism, congenital glaucoma, and dysmorphic facial features. Genetic analysis revealed a homozygous pathogenic frameshift variant (p.Gln361Profs*193) in the GLIS3 gene, located on chromosome 9p24.2. Our report confirms that infants with neonatal diabetes and congenital hypothyroidism along with facial dysmorphism should be screened for GLIS3 mutations.

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Türkyılmaz, A., i O. Yaralı. "A very rare partial trisomy syndrome: De novo duplication of 16q12.1q23.3 in a Turkish girl with developmental delay and facial dysmorphic features". Balkan Journal of Medical Genetics 23, nr 1 (26.08.2020): 103–8. http://dx.doi.org/10.2478/bjmg-2020-0009.

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AbstractTrisomy 16 is the most common type of autosomal trisomy associated with spontaneous abortion and is incompatible with life. Upon examining previously reported cases of partial chromosome 16q duplication, it was noted that the majority of cases had complex chromosomal abnormalities due to parental balanced chromosomal translocation carriage. The clinical presentation of very rare pure partial trisomy 16q cases was associated with congenital anomalies, facial dysmorphic findings and intellectual disability. In this study, we evaluated the physical characteristics and genetic data of an 8-month-old girl with developmental delay and facial dysmorphic features. Dysmorphic features including prominent metopic suture, synophrys, asymmetric head shape, triangular and asymmetric face, telecanthus, epicanthal folds, down-slanting palpebral fissures, microphthalmia of the left eye, anteverted nares, smooth and tented philtrum, microretrognathia, low-set posteriorly rotated ears, auricular pits, high-arched palate, thin upper lip and hypotonia were recorded. Her karyotype was 46,XX,add(16)(q24). To identify the extension of the duplicated section, array comparative genomic hybridization (aCGH) analysis was performed, which showed a de novo 29.8 Mb duplication [arr[hgl9] 16q12.1q23.3(52459169-82285105) x 3], interpreted to be pathogenic. We present this case report to clarify the clinical findings of a rare chromosomal anomaly, discuss the genes that may be related to the phenotype and advance the literature in terms of knowledge regarding genotypephenotype correlation.

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James, Martin, Peter Clarke i Rebecca Darcey. "Body dysmorphic disorder and facial aesthetic treatments in dental practice". British Dental Journal 227, nr 10 (listopad 2019): 929–33. http://dx.doi.org/10.1038/s41415-019-0901-7.

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Guilleminault, Christian, Rafael Pelayo, Damien Leger i Pierre Philip. "Apparent life-threatening events, facial dysmorphia and sleep-disordered breathing". European Journal of Pediatrics 159, nr 6 (9.05.2000): 444–49. http://dx.doi.org/10.1007/s004310051304.

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Naini, Farhad B., i Daljit S. Gill. "Body Dysmorphic Disorder: A Growing Problem?" Primary Dental Care os15, nr 2 (kwiecień 2008): 62–64. http://dx.doi.org/10.1308/135576108784000230.

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Body dysmorphic dsorder (BDD) is characterised by a preoccupation with an imagined defect in one's appearance or, in the case of a minor physical anomaly, the individual's concern is markedly excessive, causing significant distress in their life. One of the most common areas of preoccupation is the dentofacial region, with up to 20% of patients diagnosed with BDD expressing specific concern regarding their dental appearance. With the increased ability to undertake dental aesthetic and reconstructive procedures, in addition to the use of facial aesthetic procedures, it is paramount for all dental clinicians to have an understanding of this condition. BDD patients often request multiple aesthetic procedures, but remain unsatisfied with their treatment results. It is imperative for the dental clinician to diagnose this condition prior to instigating clinical treatment, and to make an appropriate referral.

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Okpokowuruk FS i Amanari OC. "Bilateral transverse facial clefts (congenital macrostomia) - A case report". Ibom Medical Journal 6, nr 2 (1.08.2013): 29–33. http://dx.doi.org/10.61386/imj.v6i2.108.

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We describe a very rare case of bilateral congenital macrostomia in a three month old female infant with an unusual association of brachycephaly and other dysmorphic features as a result of ingestion of an alcohol based herbal preparation, Sulphadoxine-Pyrimethamine and probably supplemental doses of Vitamin E in the early first trimester of pregnancy. This case report emphasizes the need for maternal education and support of maternal health care.

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Rouijel, Badr, Fadoua Boughaleb, Mouna Lazrek, Loubna Aqqaoui, Houda Oubejja, Hicham Zerhouni, Mounir Erraji, Sarah Hosni i Fouad Ettaybi. "Challenges in the Surgical Orthopedic Treatment of Long Bone Fracture in a Rare Case of Pycnodysostosis". SAS Journal of Surgery 10, nr 04 (9.05.2024): 548–51. http://dx.doi.org/10.36347/sasjs.2024.v10i05.005.

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Pycnodysostosis is a rare autosomal recessive disorder caused by an inactivating mutation in cathepsin K (CTSK) and characterized by dysmorphic facial features, a short stature, acro-osteolysis, osteosclerosis with increased bone fragility, and delayed closure of cranial sutures. Although the satisfying healing potential, many issues exist in managing fractures in pycnodysostosis patients. In this paper, we report the challenges faced in managing a fracture of the femoral shaft in a 14-year-old boy coming from a low-income family. The patient was administered to the Paediatric Surgical Emergency Department of the Children's Hospital in Rabat for the management of a closed fracture of the left femur. Despite being of small stature with dysmorphic facial features, a prominent forehead, and brachydactyly, he never had a medical consultation before. The patient then underwent a surgical reduction. We attempted titanium elastic nail fixation, but metaphyseal drilling was not feasible due to the high bone density, and the narrow medullary canal eliminated this option. Therefore we opted for the palate fixation. Sclerotic bone made drilling extremely difficult. The postoperative fracture was successfully healed.

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Nikolaeva, E. A., G. V. Dzhivanshiryan, O. N. Komarova, S. V. Bochenkov, A. Yu Nikolskayav, D. Yu Tokareva i V. Yu Voinova. "Developmental disorder and facial dysmorphia syndrome caused by a mutation in the MORC2 gene". Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 69, nr 6 (3.01.2025): 91–96. https://doi.org/10.21508/1027-4065-2024-69-6-91-96.

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Pathogenic nucleotide variants in the MORC2 gene have recently been linked to axonal peripheral neuropathy (Charcot–Marie–Tooth disease, axonal type 2Z) and the syndrome of developmental and growth disorders, facial dysmorphia, and axonal neuropathy (DIGFAN syndrome). DIGFAN syndrome is marked by early onset and multisystem symptoms, particularly affecting the visual and auditory organs. In approximately 30% of cases, mitochondrial encephalomyopathy is initially considered a possible diagnosis. In a girl with a heterozygous MORC2 gene mutation, the presence of DIGFAN syndrome was confirmed. Her clinical profile included motor, speech, and physical developmental delays, along with visual and auditory impairments, peripheral neuropathy, facial dysmorphia, Lee-like changes on MRI, and moderate lactic acidemia. Following metabolic therapy targeting intracellular energy exchange processes, alongside a rehabilitation program, some improvement in her condition and normalization of blood lactate levels were observed. The importance of early diagnosis is highlighted, as it supports the timely initiation of metabolic therapy and other therapeutic interventions under specialist supervision. Confirming the diagnosis is critical for anticipating disease progression and providing genetic counseling for the proband and their family.

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Rekik, Mariem, Mouna Sghir, Imen Ksibi, Wafa Said, Saida jerbi i Wassia Kessomtini. "Femoral hypoplasia- unusual facies syndrome: A case report and literature review". Journal of Medical Research 2, nr 6 (25.12.2016): 141–43. http://dx.doi.org/10.31254/jmr.2016.2604.

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The femoral hypoplasia- unusual facies syndrome (FH/ UFS); also known as femoral facial syndrome (FFS), is a rare condition characterized by a variable degree of unilateral or bilateral femoral hypoplasia associated with facial anomalies.The two principal characteristics of this syndrome, micrognathia and shortened femur, can be demonstrated by sonographic (US) imaging in the early stages of pregnancy. This disorder was first discovered by Daentt et al in 1975 and is more common in females. The femoral hypoplasia- unusual facies syndrome is a rarely considered clinical entity that has a strong association with maternal diabetes.This report describes a case of FH/ UFSfollowed in our Physical and Rehabilitation Medicine (PRM) departmentfor proximal bilateral femoral agenesis.Hehad facial dysmorphia, bilateral testicular agenesis with a rare finding like bilateral second toe supraductus.

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