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Artykuły w czasopismach na temat „Cornelia de Lange syndrome (CdL)”

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Data publikacji: 3 czerwca 2025

Data aktualizacji: 31 lipca 2025

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1

Nakajima, Atsushi, Akira Ohshima, Haruhisa Fukayama, and Tatsuki Kinoshita. "Perioperative Management of a Patient With Cornelia de Lange Syndrome and Tetralogy of Fallot." Anesthesia Progress 66, no. 3 (2019): 159–61. http://dx.doi.org/10.2344/anpr-66-04-02.

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This is a case report of a 21-year-old male patient with Cornelia de Lange syndrome (CdL) and unrepaired tetralogy of Fallot scheduled for dental treatment under general anesthesia. Anticipated dental care consisted of restorative treatment and extractions. Surgical correction of the patient's congenital cardiac abnormalities had not occurred by the time of dental treatment. As such, the developed anesthetic plan included the following goals: prevention of any anoxic episodes or spell and preparation for difficult airway management due to micrognathia secondary to CdL. To help ensure adequacy

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2

Dr., Manaswineesahoo Dr. Sunil Kumar Agarwalla Dr. Subhranshu Sekhar Dhal &. Dr. Debasispatro. "CORNELIA DE LANGE SYNDROME(CdLS) WITH TB ABDOMEN :A RARE CASE REPORT." Indian Journal of Medical Research and Pharmaceutical Sciences 4, no. 11 (2017): 31–35. https://doi.org/10.5281/zenodo.1066712.

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Cornelia de Lange syndrome(CdLS) also known as Brachmann de Lange syndrome is  a very rare genetic disorder characterized by growth delays; distinctive facial features; malformations of the hands, feet, arms, and/or legs (limb anomalies); other physical abnormalities; intellectual disability; and/or developmental delay . Gastroesophageal reflux disease (GERD)is present in almost all patients.CdLS is genetically heterogeneous and usually sporadic occuring approximately one per 10,000 births.CdLS is caused by gene mutations affecting proteins involved in sister chromatid cohesion.Here we do

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3

Luppino, Giovanni, Malgorzata Wasniewska, Giorgia Pepe, et al. "Two Years of Growth Hormone Therapy in a Child with Severe Short Stature Due to Overlap Syndrome with a Novel SETD5 Gene Mutation: Case Report and Review of the Literature." Genes 16, no. 8 (2025): 859. https://doi.org/10.3390/genes16080859.

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Background: SET domain-containing 5 (SETD5) is a member of the protein lysine-methyltransferase family. SETD5 gene mutations cause disorders of the epigenetic machinery which determinate phenotypic overlap characterized by several abnormalities. SEDT5 gene variants have been described in patients with KBG and Cornelia de Lange (CdL) syndromes. Case description: A female patient with severe short stature and intellectual disability had been followed since she was 9 years old. Several causes of short stature were ruled out. At the age of 12 years, her height was 114 cm (−5.22 SDS), weight 19 kg

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4

ALTUN, Demet, and Ali Emre ÇAMCI. "Anesthetic and Airway Management of a Pediatrıc Patient With Cornelia De Lange Syndromy: Letter to the Editor." Turkiye Klinikleri Journal of Anesthesiology Reanimation 14, no. 2 (2016): 66–68. http://dx.doi.org/10.5336/anesthe.2016-51910.

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Tayebi, Naeimeh. "Cornelia de lange syndrome." Indian Journal of Human Genetics 14, no. 1 (2008): 23. http://dx.doi.org/10.4103/0971-6866.42324.

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Crawford, Doreen, and Annette Dearmun. "Cornelia de Lange syndrome." Nursing Children and Young People 28, no. 8 (2016): 19. http://dx.doi.org/10.7748/ncyp.28.8.19.s24.

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7

Deschamps, Gabrielle N. "Cornelia de Lange Syndrome." Neonatal Network 41, no. 3 (2022): 145–49. http://dx.doi.org/10.1891/nn-2021-0011.

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Cornelia de Lange syndrome (CdLS) is a rare, multifactorial, multisystem disorder that affects approximately 1/10,000–100,000 newborns. Mutations and/or variants have been identified in seven genes that have been associated with the diagnosis of this disorder. As all of them affect the cohesin complex, CdLS is also referred to as a “transcriptomopathy” or “cohesinopathy.” The phenotype and presentation vary greatly, though there is a classic phenotype that includes a distinctive craniofacial appearance and growth pattern in addition to limb malformations. Because there are multiple overlapping

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8

Abdulla, Sam. "Cornelia de Lange syndrome." Learning Disability Practice 21, no. 2 (2018): 19. http://dx.doi.org/10.7748/ldp.21.2.19.s20.

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9

Hari Kumar, K. V. S., HBabul Reddy, and K. Neelaveni. "Cornelia de Lange syndrome." Indian Journal of Endocrinology and Metabolism 17, no. 4 (2013): 763. http://dx.doi.org/10.4103/2230-8210.113779.

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10

Boyle, M. I., C. Jespersgaard, K. Brøndum-Nielsen, A. M. Bisgaard, and Z. Tümer. "Cornelia de Lange syndrome." Clinical Genetics 88, no. 1 (2014): 1–12. http://dx.doi.org/10.1111/cge.12499.

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11

Winter, R. M. "Cornelia de Lange syndrome." Journal of Medical Genetics 23, no. 2 (1986): 188. http://dx.doi.org/10.1136/jmg.23.2.188-a.

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12

Gupta, D., and S. Goyal. "Cornelia de-Lange syndrome." Journal of Indian Society of Pedodontics and Preventive Dentistry 23, no. 1 (2005): 38. http://dx.doi.org/10.4103/0970-4388.16026.

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13

Solovyeva, N. A., E. A. Kurmaeva, G. A. Kulakova, et al. "Cornelia de Lange syndrome." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 67, no. 5 (2022): 211–15. http://dx.doi.org/10.21508/1027-4065-2022-67-5-211-215.

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The article presents the results of dynamic monitoring of a patient with Cornelia de Lange syndrome. The patient was born with archetypal facial features, multiple stigmas of dysembriogenesis, pre– and postnatal growth retardation and perinatal pathology of the brain in the form of spastic tetraparesis. Later, the child progressed with psychomotor development delay, hearing and vision disorders. Based on the conducted examination, consultations of specialists, including genetics, the diagnosis of «Cornelia de Lange syndrome» was established. To make this diagnosis, specific facial features in

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14

Cheung, K., and J. Upton. "Cornelia de Lange Syndrome." Journal of Hand Surgery 40, no. 12 (2015): 2501–3. http://dx.doi.org/10.1016/j.jhsa.2015.07.023.

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15

FitzPatrick, David R. "Cornelia de Lange syndrome." Current Opinion in Biotechnology 22 (September 2011): S21. http://dx.doi.org/10.1016/j.copbio.2011.05.029.

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16

Kher, Anjali, Rupali Salve, Ramnath Reddy, and JayantVagha. "Cornelia De-Lange syndrome." Journal of the Pediatrics Association of India 7, no. 3 (2018): 201. http://dx.doi.org/10.4103/2667-3592.301386.

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17

Mende, Rose H., David P. Drake, Raimos M. Olomi, and Ben C. J. Hamel. "Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and aNIPBLMutation." Case Reports in Genetics 2012 (2012): 1–3. http://dx.doi.org/10.1155/2012/247683.

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Cornelia de Lange syndrome is a dominantly inherited, genetically heterogeneous and clinically variable syndrome with multiple congenital anomalies and developmental delay. Gastrointestinal anomalies are common and an important cause of morbidity and mortality. We report on a newborn with a molecularly confirmed Cornelia de Lange syndrome who had an imperforate anus. This is the third report of Cornelia de Lange syndrome and imperforate anus.

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18

Susanti, Tri Retno Indah, Meira Erawati, and Dwi Retno Nurniningsih. "Gambaran Perkembangan Komunikasi Anak Cornelia de Lange Syndrome (CdLS)." Jurnal Ilmu Keperawatan Anak 2, no. 1 (2019): 27. http://dx.doi.org/10.32584/jika.v2i1.179.

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Cornelia de Lange Syndrome (CdLS) adalah gangguan perkembangan multisistem yang dikaitkan dengan gangguan kognitif, malformasi dan gangguan wajah internal yang khas. Gangguan perkembangan yang terjadi pada Cornelia de Lange Syndrome (CdLS) adalah keterampilan berbahasa dan berbicara. Tujuan dari penelitian ini adalah melihat peningkatan perkembangan komunikasi anak Sindrom Cornelia de Lange (CdLS) setelah diberi intervensi play therapy dan terapi wicaradengan menggunakan media gambar dan warna. Metodologi penelitian ini menggunakan desain studi kasus. Alat yang digunakan untuk mengukur kemampu

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19

Buhayenko, O. A., T. A. Sirotchenko, G. G. Bondarenko, and M. M. Velkovchenko. "Syndrome of Cornelia de Lange." Medical Herald of the South of Russia 9, no. 2 (2018): 110–15. http://dx.doi.org/10.21886/2219-8075-2018-9-2-110-115.

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20

Moss, Joanna, Chris Oliver, Lisa Nelson, Caroline Richards, and Scott Hall. "Delineating the Profile of Autism Spectrum Disorder Characteristics in Cornelia de Lange and Fragile X Syndromes." American Journal on Intellectual and Developmental Disabilities 118, no. 1 (2013): 55–73. http://dx.doi.org/10.1352/1944-7558-118.1.55.

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Abstract An atypical presentation of autism spectrum disorder is noted in Cornelia de Lange and Fragile X syndromes, but there are few detailed empirical descriptions. Participants in this study were individuals with Cornelia de Lange syndrome (n = 130, M age = 17.19), Fragile X syndrome (n = 182, M age = 16.94), and autism spectrum disorder (n = 142, M age = 15.19), who were comparable on chronological age. Using the Social Communication Questionnaire, the proportion meeting cutoff for autism spectrum disorder and autism was 78.6%, and 45.6%, respectively, in Cornelia de Lange syndrome and 83

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21

Tawab, Abdul, Madhu George, and Ann Mary Zacharias. "Classical Cornelia de Lange syndrome in a neonate." International Journal of Research in Medical Sciences 9, no. 12 (2021): 3710. http://dx.doi.org/10.18203/2320-6012.ijrms20214725.

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Cornelia de Lange syndrome is a rare developmental disorder syndrome involving multiple systems characterized by facial dysmorphism limb deformities, hirsutism, cardiac defects, growth and cognitive retardation, and gastrointestinal abnormalities. The features of this disorder range from mild to severe. We present here a case of preterm newborn with Classical Cornelia de Lange syndrome with heterozygous mutation in NIBPL gene.

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22

Oliver, Chris, Kate Arron, Jenny Sloneem, and Scott Hall. "Behavioural phenotype of Cornelia de Lange syndrome: case–control study." British Journal of Psychiatry 193, no. 6 (2008): 466–70. http://dx.doi.org/10.1192/bjp.bp.107.044370.

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BackgroundCornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X.AimsTo delineate the behavioural phenotype of Cornelia de Lange syndrome with specific reference to autistic-spectrum disorder.MethodA total of 54 individuals with Cornelia de Lange syndrome (mean age 13.88 years; s.d.=8.58) and 46 comparable individuals with intellectual disability (mean age 13.74 years; s.d.=7.99) were assessed on measures of autistic-spectrum disorder, and adaptive, compulsive and disordered behaviour.ResultsThere was no difference between the groups in global behaviour disorder

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23

Mosawi, Aamir. "Cornelia De Lange Syndrome in Iraq." Clinical Medical Reviews and Reports 2, no. 02 (2020): 01–04. http://dx.doi.org/10.31579/2690-8794/010.

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Background: Cornelia de Lange syndrome is a rare syndrome of highly variable phenotype making a spectrum ranging from classic syndrome with many cardinal features to mild condition few cardinal features. Typically patients with classic syndrome had growth and mental retardation and distinctive facial dysmorphism including thick (bushy) and / or long eyebrows commonly with synophrys, short nose with depressed or concave nasal bridge and/or upturned nasal tip , long or smooth or indistinct philtrum, thin upper lip vermilion and/or downturned corners of mouth, and low set ears. The diagnosis of t

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24

Moss, Joanna, Lisa Nelson, Laurie Powis, Jane Waite, Caroline Richards, and Chris Oliver. "A Comparative Study of Sociability in Angelman, Cornelia de Lange, Fragile X, Down and Rubinstein Taybi Syndromes and Autism Spectrum Disorder." American Journal on Intellectual and Developmental Disabilities 121, no. 6 (2016): 465–86. http://dx.doi.org/10.1352/1944-7558-121.6.465.

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Abstract Few comparative studies have evaluated the heterogeneity of sociability across a range of neurodevelopmental disorders. The Sociability Questionnaire for People with Intellectual Disability (SQID) was completed by caregivers of individuals with Cornelia de Lange (n = 98), Angelman (n = 66), Fragile X (n = 142), Down (n = 117) and Rubinstein Taybi (n = 88) syndromes and autism spectrum disorder (ASD; n = 107). Between groups and age-band (&lt;12yrs; 12–18yrs; &gt;18yrs) comparisons of SQID scores were conducted. Rates of behaviors indicative of selective mutism were also examin

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25

Eswaramoorthy, Malarmathi, and Murali Gopika Manoharan. "Cornelia De Lange Syndrome – Case Report." IOSR Journal of Dental and Medical Sciences 23, no. 12 (2024): 35–37. https://doi.org/10.9790/0853-2312053537.

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Cornelia de Lange syndrome (CdLS) is a complex genetic disorder characterized by distinctive facial features, delayed growth, and limb abnormalities. In 1916, Dr. W. Brachmann described the first case of this syndrome but in 1933 Cornelia de Lange, a Dutch pediatrician from Amsterdam was the first to report about two cases of this syndrome. It is also called Brachmann de Lange syndrome, Amsterdam dwarfism, Bushy syndrome. Craniofacial features commonly associated with CdLS include synophrys (joined eyebrows), arched eyebrows, long eyelashes, and microcephaly. The exact incidence is uncertain,

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26

Bubnevich, T. E. "Cornelia de Lange syndrome in children." Health and Ecology Issues, no. 3 (September 28, 2016): 102–7. http://dx.doi.org/10.51523/2708-6011.2016-13-3-22.

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Cornelia de Lange syndrome is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, thin lips, «carp» mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there are clinical options with milder phenotypes in this syndrome. The prevalence of the syndrome is 1:10,000-30,000 live births, occurs equally, regardless of gender. Although this syndrome is conside

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Macdonald, D. M., and M. Greaves. "(9-11) Cornelia de Lange syndrome." British Journal of Dermatology 95 (July 29, 2006): 37–39. http://dx.doi.org/10.1111/j.1365-2133.1976.tb07903.x.

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IRELAND, M., and J. BURN. "Cornelia de Lange syndrome ??? photo essay." Clinical Dysmorphology 2, no. 2 (1993): 151???160. http://dx.doi.org/10.1097/00019605-199304000-00011.

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Tol, Banu Erten, Eren Fatma Akcil, Ozlem Korkmaz Dilmen, Guniz Meyanci Koksal, Ercument Yentur, and Yusuf Tunali. "Cornelia de Lange Syndrome-Case report." Turkish Journal of Anaesthesiology and Reanimation 41, no. 1 (2020): 30–31. http://dx.doi.org/10.5152/tjar.2013.07.

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Erten Tol, Emin Banu, Eren Fatma Akcil, Ozlem Korkmaz Dilmen, Guniz Meyanci Koksal, Ercument Yentur, and Yusuf Tunali. "Cornelia de Lange Syndrome-Case report." Turkish Journal of Anesthesia and Reanimation 41, no. 1 (2013): 30–31. http://dx.doi.org/10.5152/tjar.2013.7.

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Schwartz, I. David, Karen J. Schwartz, Boris G. Kousseff, Barry B. Bercu, and Allen W. Root. "Endocrinopathies in Cornelia de Lange syndrome." Journal of Pediatrics 117, no. 6 (1990): 920–23. http://dx.doi.org/10.1016/s0022-3476(05)80137-4.

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Kayembe Kitenge, Tony, Toni Kasole Lubala, Sebastien Mbuyi-Musanzayi, et al. "Microtia in Cornelia de Lange syndrome." Clinical Dysmorphology 25, no. 4 (2016): 178–80. http://dx.doi.org/10.1097/mcd.0000000000000129.

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Rajan, Roy, James R. Benke, Antonie D. Kline, et al. "Insomnia in Cornelia de Lange Syndrome." International Journal of Pediatric Otorhinolaryngology 76, no. 7 (2012): 972–75. http://dx.doi.org/10.1016/j.ijporl.2012.03.008.

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Gilgenkrantz, Simone. "Le syndrome de Cornelia de Lange." médecine/sciences 20, no. 11 (2004): 954–56. http://dx.doi.org/10.1051/medsci/20042011954.

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Sataloff, R. T., J. R. Spiegel, M. Hawkshaw, J. M. Epstein, and L. Jackson. "Cornelia de Lange Syndrome: Otolaryngologic Manifestations." Archives of Otolaryngology - Head and Neck Surgery 116, no. 9 (1990): 1044–46. http://dx.doi.org/10.1001/archotol.1990.01870090060008.

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Ireland, M. "(1) Facts about Cornelia de Lange syndrome. (2) Facing the Challenges. A Parents' Guide to Cornelia de Lange Syndrome. (3) Cornelia de Lange Syndrome Foundation Album 1989-90." Journal of Medical Genetics 29, no. 6 (1992): 440. http://dx.doi.org/10.1136/jmg.29.6.440-b.

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Parisi, Lucia, Teresa Di Filippo, and Michele Roccella. "Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome." Mental Illness 7, no. 2 (2015): 32–35. http://dx.doi.org/10.1108/mi.2015.5988.

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Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (NIPBL, SMC3 and SMC1A), are responsible for approximately 50-60% of CdLS cases. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. The prevalence of autism spectrum disorder (ASD) symptomatology is comparat

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38

Melanie, Melanie. "Cornelia de Lange Syndrome: A Case Study." Neonatal Network 21, no. 3 (2002): 7–13. http://dx.doi.org/10.1891/0730-0832.21.3.7.

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Cornelia de Lange syndrome (CdLS) is a rare dysmorphogenic disorder characterized by growth retardation, severe cognitive limitations, distinctive facial features, and limb reduction anomalies recognizable at birth. Currently, no single criterion is diagnostic for CdLS, and misdiagnosis is not uncommon. Long-term management of the infant with CdLS requires a coordinated effort among many different specialists. This article presents a general overview of Cornelia de Lange syndrome. It concludes with a case study illustrating the many problems infants with CdLS may have and the great amount of t

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Abarca-Barriga, Hugo H., Renzo Punil Luciano, and Flor Vásquez Sotomayor. "Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very-High-Resolution Chromosomal Microarray Analysis." Genes 14, no. 12 (2023): 2212. http://dx.doi.org/10.3390/genes14122212.

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Cornelia de Lange syndrome is a genetic and clinically heterogeneous entity, caused by at least five genes. It is characterized by short stature, gestalt facies, microcephaly, neurodevelopmental disorders, and other anomalies. In this report, we present a 13-year-old female patient with microcephaly, cleft palate, polydactyly, short stature, triangular facies, frontal bossing, a bulbous nose, an overfolded helix, limited pronosupination, and an anomalous uterus. No neurodevelopmental disorders were reported. A chromosomal microarray analysis of 6.5 million markers was performed in the proband

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Karim, Muhammad Rezaul, Suraiya Begum, Kohinoor Jahan Shamaly, and Ismot Ara Zannat. "Cornelia de Lange Syndrome A Case Report." Bangladesh Journal of Child Health 44, no. 1 (2020): 52–54. http://dx.doi.org/10.3329/bjch.v44i1.49708.

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Cornelia de Lange syndrome (CdLS) is a rare syndrome of multisystem disorder. Almost every system is involved in this disorder having growth retardation, facial dysmorphism, short stature, psychomotor delay and behavioral problems. Diagnosis is made on the basis of clinical observations, physical examination, laboratory tests and X-rays; chromosome analysis is usually conducted before a diagnosis is made. DNA testing is helpful for confirmation of the clinical diagnosis. A 10 year old boy presented with short stature, facial dysmorphism, microcephaly, mental retardation and micromelia. DNA ana

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Jyonouchi, S., J. Orange, K. E. Sullivan, I. Krantz, and M. Deardorff. "Immunologic Features of Cornelia de Lange Syndrome." PEDIATRICS 132, no. 2 (2013): e484-e489. http://dx.doi.org/10.1542/peds.2012-3815.

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Bhatia, Rupinder, and Diana Noshir Mehta. "Cornelia De-Lange Syndrome: A Case Report." International Journal of Clinical Pediatric Dentistry 6, no. 2 (2013): 115–18. http://dx.doi.org/10.5005/jp-journals-10005-1201.

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Eghlileb, AhmedM, and AndrewY Finlay. "Granulomatous rosacea in Cornelia de Lange syndrome." Indian Journal of Dermatology, Venereology and Leprology 75, no. 1 (2009): 74. http://dx.doi.org/10.4103/0378-6323.45229.

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Toker, Aslihan Soyal, Sinan Ay, Hasan Yeler, and Ilhan Sezgin. "Dental Findings in Cornelia De Lange Syndrome." Yonsei Medical Journal 50, no. 2 (2009): 289. http://dx.doi.org/10.3349/ymj.2009.50.2.289.

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Chawla, Charvi, PrasannaKumar Rao, Raghavendra Kini, and Devika Shetty. "Cornelia de-Lange syndrome - A case report." Journal of Indian Academy of Oral Medicine and Radiology 30, no. 1 (2018): 92. http://dx.doi.org/10.4103/jiaomr.jiaomr_153_16.

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Choi, Eun-Joo, Hong-Keun Hyun, Young-Jae Kim, et al. "CORNELIA DE LANGE SYNDROME: A CASE REPORT." JOURNAL OF THE KOREAN ACADEMY OF PEDTATRIC DENTISTRY 38, no. 1 (2011): 56–61. http://dx.doi.org/10.5933/jkapd.2011.38.1.056.

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KESKİN, Esra, and Ayşe LİVANELİOĞLU. "Neurodevelopment Physiotherapy in Cornelia de Lange Syndrome." Turkiye Klinikleri Journal of Pediatrics 27, no. 2 (2018): 83–88. http://dx.doi.org/10.5336/pediatr.2018-59617.

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Leanza, Vito, Gabriella Rubbino, and Gianluca Leanza. "Case Report: Atypical Cornelia de Lange Syndrome." F1000Research 3 (May 27, 2015): 33. http://dx.doi.org/10.12688/f1000research.3-33.v2.

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Cornelia de Lange Syndrome (CdLS) (also called Bushy Syndrome or Amsterdam dwarfism), is a genetic disorder that can lead to several alterations. This disease affects both physical and neuropsychiatric development. The various abnormalities include facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, and gastrointestinal alterations. The prevalence of this syndrome is approximately one per 15,000. Ultrasound is not the perfect means to diagnose CdLS, however, many abnor

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Kalal, Goud Iravathy, Vimarsh P. Raina, Veerabhadra S. Nayak, Pooja Teotia, and Bhushan V. Gupta. "Cornelia de Lange Syndrome: A Case Study." Genetic Testing and Molecular Biomarkers 13, no. 1 (2009): 15–18. http://dx.doi.org/10.1089/gtmb.2008.0057.

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