Artykuły w czasopismach: „Syndrome de Rubinstein-Taybi”

1

George, Peter, i Ranjith Ravella. "Rubinstein–Taybi syndrome". Indian Journal of Medical Research 152, nr 7 (2020): 236. http://dx.doi.org/10.4103/ijmr.ijmr_2399_19.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

2

Grkovic, Slobodanka, Milos Jesic, Maja Jesic i Svjetlana Maglajlic. "Rubinstein-Taybi syndrome". Srpski arhiv za celokupno lekarstvo 132, suppl. 1 (2004): 109–10. http://dx.doi.org/10.2298/sarh04s1109g.

Pełny tekst źródła

Streszczenie:

Rubinstein-Taybi syndrome is a malformation occurring with approximate incidence of 1 per 10.000 live-born children. The diagnosis is usually based on specific facial dysmorphism in neonatal period, as well as on characteristic deformities of the hands and feet. Our study presents a male child who was diagnosed to have Rubinstein-Taybi syndrome when he was one month old. The child had all characteristic clinical features. In further follow-up period, corrective surgery and control of his psychomotor development are being planned.

Style APA, Harvard, Vancouver, ISO itp.

3

Khan, Firdous, Tahseen Ahmed Cheema i Muhammad Tahir. "RUBINSTEIN TAYBI SYNDROME". Professional Medical Journal 23, nr 07 (10.07.2016): 883–86. http://dx.doi.org/10.29309/tpmj/2016.23.07.1656.

Pełny tekst źródła

Streszczenie:

Rubinstein Taybi Syndrome (RTS) was first described in 1963 by Rubinsteinand Taybi. The characteristic features of this syndrome include broad thumbs and toes,facial abnormalities like hypertelorism, beaked nose, micrognathia, microcephaly and mentalretardation. Cardiac, renal, ophthalmological and various orthopedic problems can also occur.Prevalence in the general population is approximately 1 case per 300,000 persons and is as highas 1 case per 10,000 live births. There is no definite inheritance pattern so far and recurrenceis very unlikely. In some patients, multiple chromosomal anomalies have been described. Wereport here a case of Rubinstein Taybi syndrome in an 18 months old girl presented with typicalfeatures which is the first case reported in our population.

Style APA, Harvard, Vancouver, ISO itp.

4

Berry, A. C. "Rubinstein-Taybi syndrome." Journal of Medical Genetics 24, nr 9 (1.09.1987): 562–66. http://dx.doi.org/10.1136/jmg.24.9.562.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

5

HENNEKAM, RAOUL C. M. "Rubinstein-Taybi syndrome". Clinical Dysmorphology 2, nr 1 (styczeń 1993): 87???92. http://dx.doi.org/10.1097/00019605-199301000-00013.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

6

Baxter, Garry, i John Beer. "Rubinstein-Taybi Syndrome". Psychological Reports 70, nr 2 (kwiecień 1992): 451–56. http://dx.doi.org/10.2466/pr0.1992.70.2.451.

Pełny tekst źródła

Streszczenie:

Rubinstein-Taybi Syndrome was first described in 1957 but only in 1963 as a distinguishable type of moderate mental retardation. The cause is still unknown although some type of genetic origin is possible. No consistent chromosomal abnormality has been demonstrated, the chromosomal analysis is normal, and cases are generally not considered hereditary. The recurrent risk for siblings is approximately 0.1% but may be as high as 50% for offspring of patients with the syndrome. The Rubinstein-Taybi syndrome is not at present detectable before birth and is evenly found in both males and females. The syndrome was thought to be rare but an increase in the number of reported cases each year suggests it is not as rare as estimated. It is thought to occur in about 1 in 300,000 births, and since it has become readily identifiable, more than 400 cases have been reported worldwide.

Style APA, Harvard, Vancouver, ISO itp.

7

Das, N., N. Ghosh, S. Biswas i K. Nayek. "Rubinstein Taybi Syndrome". Journal of Nepal Paediatric Society 33, nr 1 (15.06.2013): 68–69. http://dx.doi.org/10.3126/jnps.v33i1.7091.

Pełny tekst źródła

Streszczenie:

Rubinstein Taybi is a rare genetic syndrome with characteristic facial features, broad thumb and toes, mental retardation. Diagnosis is mainly clinical. Here we report a 2 and ½ year old female child with typical facial features and other anomalies characteristics of Rubistein Taybi syndrome. Among the different features described-polydactyly, syndactyly, micrognathia are occasional abnormalities to be found in this syndrome. Bilateral pits on posterior aspect of helix is also a feature described in very few literatures. DOI: http://dx.doi.org/10.3126/jnps.v33i1.7091 J Nepal Paediatr Soc. 2013;33(1):68-69

Style APA, Harvard, Vancouver, ISO itp.

8

Hennekam, Raoul C. M. "Rubinstein–Taybi syndrome". European Journal of Human Genetics 14, nr 9 (26.07.2006): 981–85. http://dx.doi.org/10.1038/sj.ejhg.5201594.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

9

Hutchinson, Douglas T., i Ryan Sullivan. "Rubinstein-Taybi Syndrome". Journal of Hand Surgery 40, nr 8 (sierpień 2015): 1711–12. http://dx.doi.org/10.1016/j.jhsa.2014.08.043.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

10

Melekos, Michael, George Barbalias i Hans Werner Asbach. "Rubinstein-Taybi syndrome". Urology 30, nr 3 (wrzesień 1987): 238–39. http://dx.doi.org/10.1016/0090-4295(87)90242-1.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

11

Vagha, Jayant, Ashish Verma, Abhishek Kalwani, Ramnath Reddy i Anjali Kher. "Rubinstein-Taybi syndrome". Journal of the Pediatrics Association of India 7, nr 4 (2018): 245. http://dx.doi.org/10.4103/2667-3592.301394.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

12

Gunashekhar, Madiraju, Mohammad Shahul Hameed i Syed Kamran Bokhari. "Oral and Dental Manifestations in Rubinstein-Taybi Syndrome: Report of a Rare Case". Primary Dental Care os19, nr 1 (styczeń 2012): 35–38. http://dx.doi.org/10.1308/135576112798990773.

Pełny tekst źródła

Streszczenie:

Rubinstein-Taybi syndrome, or broad thumb-hallux syndrome, is a well-defined rare congenital disorder characterised by postnatal growth deficiency, craniofacial dysmorphism, broad thumbs and great toes, and mental retardation (intellectual disability). Occurrence may be either sporadic or through autosomal dominant inheritance. Reports of Rubinstein-Taybi syndrome are scarce in the literature. This case report describes the oral and dentofacial findings of Rubinstein-Taybi syndrome affecting a 13-year-old Indian female, including the uncommon presence of talon cusps and an unerupted supernumerary tooth.

Style APA, Harvard, Vancouver, ISO itp.

13

Vanhoenacker, Filip M., i Ralph Lachman. "History Page: Leaders in MSK Radiology: Hooshang Taybi, 1919–2006". Seminars in Musculoskeletal Radiology 28, nr 05 (październik 2024): 657–58. http://dx.doi.org/10.1055/s-0044-1786536.

Pełny tekst źródła

Streszczenie:

AbstractThis history page is dedicated to the memory and achievements of the pediatric radiologist Hooshang Taybi whose name is associated with the Rubinstein-Taybi syndrome, Taybi syndrome, and Taybi-Linder syndrome.

Style APA, Harvard, Vancouver, ISO itp.

14

Zavras, Nick, Rosario Mennonna, Spyros Maris i George Vaos. "Circumscribed Storiform Collagenoma Associated with Rubinstein-Taybi Syndrome in a Young Adolescent". Case Reports in Dermatology 8, nr 1 (5.03.2016): 59–63. http://dx.doi.org/10.1159/000444630.

Pełny tekst źródła

Streszczenie:

Rubinstein-Taybi syndrome is a rare congenital neurodevelopmental disorder characterized by dysmorphic features, skeletal abnormalities, growth deficiency, and mental retardation. Circumscribed storiform collagenoma is a distinct benign fibromatous tumor that presents either as solitary tumor or in association with other syndromes. In this report, we describe a 16-year-old male with Rubinstein-Taybi syndrome associated with circumscribed storiform collagenoma. To our knowledge, this association has not been previously described in the literature.

Style APA, Harvard, Vancouver, ISO itp.

15

Arshi, J., D. Allison i D. Rao. "Hepatoblastoma With Rubinstein-Taybi Syndrome: A Rare Association". American Journal of Clinical Pathology 154, Supplement_1 (październik 2020): S55. http://dx.doi.org/10.1093/ajcp/aqaa161.118.

Pełny tekst źródła

Streszczenie:

Abstract Introduction/Objective Hepatoblastoma is a malignant neoplasm of liver, exclusively seen in pediatric population. It has been known to occur with various syndromes like Li-fraumeni, Beckwith-Wiedemann, and Simpson-Golabi- Behmel among others. Small undifferentiated cells and macro-trabecular pattern with increased mitotic activity and AFP>100 are associated with unfavorable prognosis. Rubinstein-Taybi syndrome is a rare genetic disease. Even though there has been intensive research on the genetic and epigenetic function of the CREBBP and EP300 genes in animal models, the etiology of this rare and devastating syndrome is largely unknown. Hepatoblastoma with Rubinstein-Taybi syndrome is an extremely rare occurrence. Methods Here we present an incidental case of Hepatoblastoma with Rubinstein-Taybi syndrome Results A 17-month-old Caucasian female with Rubinstein-Taybi syndrome, was found to have an incidental 1.1 cm nodule in the right lobe of liver. Her AFP was elevated (244.9ng/ml). Hepatic resection revealed a well-circumscribed tan white mass, measuring 3.5 cm in the greatest dimension. On microscopy, uniform round to cuboidal cells resembling fetal hepatocytes, with finely granular cytoplasm, small round nuclei, and indistinct nucleoli were seen. The cells were arranged in solid sheets and scant trabecular arrangement separated by narrow sinusoids. The tumor displayed predominantly fetal histology, with rare embryonal and small undifferentiated cell nests. The diagnosis of Hepatoblastoma was made. The patient underwent chemotherapy and was doing well at 5-years follow-up. Conclusion Extensive screening of patients in recent times has revealed mutations in CREBBP and EP300 in only around 50% of cases. The genetic and epigenetic associations of the syndrome in the remaining half of cases remains to be identified. Hepatoblastoma with Rubinstein-Taybi Syndrome is an extremely rare occurrence and might shed some light on other genes that could be involved in this syndrome. Further studies to review the mutation spectrum to understand the causative molecular mechanisms are deemed essential.

Style APA, Harvard, Vancouver, ISO itp.

16

Ismagilova, O. R., T. S. Beskorovaynaya, T. A. Adyan i A. V. Polyakov. "Molecular-genetic basis of Rubinstein–Taybi syndrome". Neuromuscular Diseases 13, nr 2 (15.06.2023): 31–41. http://dx.doi.org/10.17650/2222-8721-2023-13-2-31-41.

Pełny tekst źródła

Streszczenie:

Rubinstein–Taybi syndrome is a multisystem pathology characterized by mental retardation and delayed physical development in combination with a set of phenotypic features, which make up a recognizable pattern of the disease. This review of the literature highlights the molecular‑genetic basis and the presumed pathogenesis of the Rubinstein–Taybi syndrome, considers questions of geno‑phenotypic correlations and differential diagnosis in the group of pathologies called chromatinopathies.

Style APA, Harvard, Vancouver, ISO itp.

17

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.

Pełny tekst źródła

Streszczenie:

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.

Style APA, Harvard, Vancouver, ISO itp.

18

Guerra, Fabiola, Francesco Saettini i Andrea Biondi. "Sindromi, genetica e immunologia: dall’inizio della fine alla fine dell’inizio". Medico e Bambino 42, nr 9 (15.11.2023): 569–74. http://dx.doi.org/10.53126/meb42569.

Pełny tekst źródła

Streszczenie:

Syndromic immunodeficiencies are defined as a group of immunodeficiencies in which the immunological defect may be found only in a subgroup of patients. They fall within a more complex clinical picture and may not represent the primary clinical problem (i.e. DiGeorge syndrome, ataxia-telangiectasia, CHARGE syndrome, Kabuki syndrome etc.). Along with well-known and recognized syndromic immunodeficiencies, immunological abnormalities have been recently described in genetic syndromes that were not previously considered as inborn errors of immunity. The paper describes the cases of two patients affected by two rare genetic syndromes, namely Jacobsen syndrome and Rubinstein-Taybi syndrome. In the first case, the immunological phenotype of Jacobsen syndrome has been expanded. In the second, the growing body of evidence has pointed out that patients with Rubinstein-Taybi syndrome may present with immunological abnormalities.

Style APA, Harvard, Vancouver, ISO itp.

19

Roelfsema, Jeroen H., i Dorien J. M. Peters. "Rubinstein–Taybi syndrome: clinical and molecular overview". Expert Reviews in Molecular Medicine 9, nr 23 (sierpień 2007): 1–16. http://dx.doi.org/10.1017/s1462399407000415.

Pełny tekst źródła

Streszczenie:

Rubinstein–Taybi syndrome is characterised by mental retardation, growth retardation and a particular dysmorphology. The syndrome is rare, with a frequency of approximately one affected individual in 100 000 newborns. Mutations in two genes –CREBBPandEP300– have been identified to cause the syndrome. These two genes show strong homology and encode histone acetyltransferases (HATs), which are transcriptional co-activators involved in many signalling pathways. Loss of HAT activity is sufficient to account for the phenomena seen in Rubinstein–Taybi patients. Although some mutations found inCREBBPare translocations, inversions and large deletions, most are point mutations or small deletions and insertions. Mutations inEP300are comparatively rare. Extensive screening of patients has revealed mutations inCREBBPandEP300in around 50% of cases. The cause of the syndrome in the remaining patients remains to be identified, but other genes could also be involved. Here, we describe the clinical presentation of Rubinstein–Taybi syndrome, review the mutation spectrum and discuss the current understanding of causative molecular mechanisms.

Style APA, Harvard, Vancouver, ISO itp.

20

Nayak, Raghavendra B., Ambika Lakshmappa, Nanasaheb M. Patil, Sameeran S. Chate i Lohit Somashekar. "Rubinstein–Taybi Syndrome with Psychosis". Indian Journal of Psychological Medicine 34, nr 2 (kwiecień 2012): 184–86. http://dx.doi.org/10.4103/0253-7176.101796.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

21

HERRANZ, P., J. BORBUJO, W. MARTINEZ, C. VIDAURRAZAGA, R. DIAZ i M. CASADO. "Rubinstein-Taybi syndrome with piebaldism". Clinical and Experimental Dermatology 19, nr 2 (marzec 1994): 170–72. http://dx.doi.org/10.1111/j.1365-2230.1994.tb01152.x.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

22

Papathemeli, Despoina, Nicole Schulzendorff, Jürgen Kohlhase, Daniela Göppner, Ingolf Franke i Harald Gollnick. "Pilomatricomas in Rubinstein-Taybi syndrome". JDDG: Journal der Deutschen Dermatologischen Gesellschaft 13, nr 3 (26.02.2015): 240–42. http://dx.doi.org/10.1111/ddg.12504.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

23

Hamilton, Mark J., Ruth Newbury-Ecob, Muriel Holder-Espinasse, Shu Yau, Suzanne Lillis, Jane A. Hurst, Emma Clement i in. "Rubinstein–Taybi syndrome type 2". Clinical Dysmorphology 25, nr 4 (październik 2016): 135–45. http://dx.doi.org/10.1097/mcd.0000000000000143.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

24

van Belzen, Martine, Oliver Bartsch, Didier Lacombe, Dorien J. M. Peters i Raoul C. M. Hennekam. "Rubinstein–Taybi syndrome (CREBBP, EP300)". European Journal of Human Genetics 19, nr 1 (28.07.2010): 3. http://dx.doi.org/10.1038/ejhg.2010.124.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

25

Gathuya, Z., i A. Bosenberg. "Anaesthesia and Rubinstein-Taybi syndrome". Southern African Journal of Anaesthesia and Analgesia 11, nr 4 (listopad 2005): 135–37. http://dx.doi.org/10.1080/22201173.2005.10872414.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

26

Claus, J. A., B. G. Kousseff, J. R. Ranells i G. A. Jervis. "Rubinstein-Taybi syndrome with hepatoblastoma". Genetics in Medicine 2, nr 1 (styczeń 2000): 77. http://dx.doi.org/10.1097/00125817-200001000-00092.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

27

Wiley, Susan, Susan Swayne, Jack H. Rubinstein, Nancy E. Lanphear i Cathy A. Stevens. "Rubinstein-Taybi syndrome medical guidelines". American Journal of Medical Genetics 119A, nr 2 (9.05.2003): 101–10. http://dx.doi.org/10.1002/ajmg.a.10009.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

28

Masuno, Mitsuo, Kiyoshi Imaizumi, Takuma Ishii, Yoshikazu Kuroki, Naoko Baba i Yukichi Tanaka. "Pilomatrixomas in Rubinstein-Taybi syndrome". American Journal of Medical Genetics 77, nr 1 (28.04.1998): 81–82. http://dx.doi.org/10.1002/(sici)1096-8628(19980428)77:1<81::aid-ajmg19>3.0.co;2-k.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

29

Bonioli, Eugenio, i Carlo Bellini. "Rubinstein-Taybi syndrome and pheochromocytoma". American Journal of Medical Genetics 44, nr 3 (1.10.1992): 386. http://dx.doi.org/10.1002/ajmg.1320440325.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

30

Allanson, Judith E. "Microcephaly in Rubinstein-Taybi syndrome". American Journal of Medical Genetics 46, nr 2 (15.04.1993): 244–46. http://dx.doi.org/10.1002/ajmg.1320460228.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

31

Miller, Robert W., i Jack H. Rubinstein. "Tumors in Rubinstein-Taybi syndrome". American Journal of Medical Genetics 56, nr 1 (13.03.1995): 112–15. http://dx.doi.org/10.1002/ajmg.1320560125.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

32

Bonioli, Eugenio, i Carlo Bellini. "Inheritance of Rubinstein-Taybi syndrome". American Journal of Medical Genetics 32, nr 4 (kwiecień 1989): 559. http://dx.doi.org/10.1002/ajmg.1320320433.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

33

Hennekam, Raoul C. M. "Bibliography on Rubinstein-Taybi syndrome". American Journal of Medical Genetics 37, S6 (6.06.2005): 77–83. http://dx.doi.org/10.1002/ajmg.1320370614.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

34

Stevens, Cathy A., Jill Pouncey i Darcy Knowles. "Adults with Rubinstein-Taybi syndrome". American Journal of Medical Genetics Part A 155, nr 7 (10.06.2011): 1680–84. http://dx.doi.org/10.1002/ajmg.a.34058.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

35

Ozdemir, Yesim, Murat Cag, Munis Dundar, Aslihan Kiraz i Cihan Meral. "Two Pathogenic Variants in Two Ultra Rare Syndromes; Smith- Kingsmore Syndrome and Rubinstein Taybi Syndrome Type2". International Journal of Innovative Research in Medical Science 7, nr 02 (26.02.2022): 100–106. http://dx.doi.org/10.23958/ijirms/vol07-i02/1355.

Pełny tekst źródła

Streszczenie:

Smith-Kingsmore Syndrome is a very rare autosomal dominant intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features. The prevalence of SKS, with 27 patients reported so far, is still unknown. Rubinstein Taybi Syndrome Type 2 (RSTS2) is another rare genetic condition that prevalance is <1/1.000.000. It is characterized by mental and developmental retardation, dysmorphic findings. We present a seven-year-old girl who was diagnosed with SKS and RSTS2 based on identification of a novel de novo pathogenic variant in the MTOR and EP300 genes (MIM #616638 and #613684) by Whole Exome Sequencing and supported by some characteristic clinical features. In our patient, pathogenic mutations belonging to two different ultra-rare syndromes were found. However, the patient had clinical findings of only Smith Kingmore Syndrome among the syndromes. Although he had a pathogenic mutation, she did not have the clinical findings of Rubinstein Taybi Syndrome. This the first case presenting two different mutation of these two ultra-rare syndromes.

Style APA, Harvard, Vancouver, ISO itp.

36

de Castro Coelho, Filipa, Sara Câmara, Inês Alves i Kathleen Brazão. "Septate Uterus in a Girl with Rubinstein–Taybi Syndrome". Case Reports in Pediatrics 2018 (2018): 1–4. http://dx.doi.org/10.1155/2018/7878156.

Pełny tekst źródła

Streszczenie:

Rubinstein–Taybi syndrome is an extremely rare plurimalformative condition that can affect any organ. However, reports regarding gynecological problems are unusual. We report the first case of a septate uterus in an adolescent with this syndrome, in agreement with the American Society for Reproductive Medicine (ASRM) and the Congenital Uterine Malformations by Expert (CUME) criteria for uterine septum. Additional studies are required to determine whether there is an increased frequency of müllerian duct anomalies with the condition. Our report extends the data on the clinical phenotype associated with Rubinstein–Taybi syndrome.

Style APA, Harvard, Vancouver, ISO itp.

37

Ganji-Harsini, Sedigheh, Sepide Seydi, Ali Ghanbari, Mostafa Sedighi, Mazyar Khazali i Mahsa Falahi. "Withdrawn: Rubenstein-Taybi Syndrome with bilateral absence of patella: a case report". Brazilian Journal of Biological Sciences 3, nr 5 (2016): 227. http://dx.doi.org/10.21472/bjbs.030521.

Pełny tekst źródła

Streszczenie:

Rubinstein-Taybi Syndrome (RTS) is a neuromuscular syndrome which is mainly characterized by a delay in growth, psychomotor retardation, duplication of the distal phalanx of the thumbs, typical facial dimorphism. Absence of patella that causes difficulties in walking is extremely rare and occurs usually with other signs of a syndrome. Bilateral absence of patella was seen during clinical examination of a case suffered to Rubinstein-Taybi Syndrome. The case was a six-year-old full term born boy, with deformed knees since birth admitted to Farabi Hospital, Kermanshah, Iran, at September 2015. The physical signs were similar to the previously reported cases, except the absence of patella.

Style APA, Harvard, Vancouver, ISO itp.

38

Kamate, Mahesh, NS Mahantshetti i Anshul Mehra. "Rubinstein Taybi syndrome: Broad thumbs - Hallux syndrome". Journal of the Scientific Society 39, nr 1 (2012): 42. http://dx.doi.org/10.4103/0974-5009.96474.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

39

Yamaguchi, Yoshihisa, Yukiyoshi Kawaguchi, Kazumasa Yamaguchi, Zenzi Sakamoto, Kenzi Miyahara i Akihiro Kuba. "Five cases of Rubinstein-Taybi syndrome." Orthopedics & Traumatology 35, nr 2 (1986): 697–702. http://dx.doi.org/10.5035/nishiseisai.35.697.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

40

Shevchenko, O. A. "Rubinstein—Taybi syndrome in pediatric neurology". PERINATOLOGIYA I PEDIATRIYA 57, nr 1 (15.04.2014): 59–67. http://dx.doi.org/10.15574/pp.2014.57.59.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

41

Chopra, Sukhbir Singh, Adarsh Chauhan i Rajat Mitra. "Rubinstein–Taybi syndrome: A case report". International Journal of Medical and Dental Case Reports 6, nr 1 (2019): 1–3. http://dx.doi.org/10.15713/ins.ijmdcr.125.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

42

Ge, Nengjie, Barbara F. Crandall, James D. Shuler i J. Bronwyn Bateman. "Coloboma Associated With Rubinstein-Taybi Syndrome". Journal of Pediatric Ophthalmology & Strabismus 32, nr 4 (lipiec 1995): 266–68. http://dx.doi.org/10.3928/0191-3913-19950701-17.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

43

Herriot, R., i Z. Miedzybrodzka. "Antibody deficiency in Rubinstein-Taybi syndrome". Clinical Genetics 89, nr 3 (28.09.2015): 355–58. http://dx.doi.org/10.1111/cge.12671.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

44

Verhoeven, W. M. A., S. Tuinier, H. J. H. Kuijpers, J. I. M. Egger i H. G. Brunner. "Psychiatric Profile in Rubinstein-Taybi Syndrome". Psychopathology 43, nr 1 (2010): 63–68. http://dx.doi.org/10.1159/000260045.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

45

Sahiner, U. M., S. Senel, N. Erkek, C. Karacan i A. Yoney. "Rubinstein Taybi Syndrome with Hepatic Hemangioma". Medical Principles and Practice 18, nr 2 (2009): 162–64. http://dx.doi.org/10.1159/000189818.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

46

Patel, Samir M., Mumin Hakim, Senthil G. Krishna i Joseph D. Tobias. "Anesthetic Implications in Rubinstein-Taybi Syndrome". Journal of Medical Cases 6, nr 11 (2015): 534–36. http://dx.doi.org/10.14740/jmc2344w.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

47

Levitas, A. S., i C. S. Reid. "Rubinstein-Taybi syndrome and psychiatric disorders". Journal of Intellectual Disability Research 42, nr 4 (5.01.2002): 284–92. http://dx.doi.org/10.1046/j.1365-2788.1998.00136.x.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

48

Olson, D. P. "Thyroid Function in Rubinstein-Taybi Syndrome". Journal of Clinical Endocrinology & Metabolism 82, nr 10 (1.10.1997): 3264–66. http://dx.doi.org/10.1210/jc.82.10.3264.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

49

DaCosta, J., i J. Brookes. "Infantile glaucoma in Rubinstein–Taybi syndrome". Eye 26, nr 9 (22.06.2012): 1270–71. http://dx.doi.org/10.1038/eye.2012.123.

Pełny tekst źródła

Style APA, Harvard, Vancouver, ISO itp.

50

Münevveroglu, A. P., i B. B. Akgöl. "Rubinstein-Taybi Syndrome: A Case Report". Case Reports in Dentistry 2012 (2012): 1–4. http://dx.doi.org/10.1155/2012/483867.

Pełny tekst źródła

Streszczenie:

Rubinstein-Taybi syndrome or Broad Thumb-Hallux syndrome is a genetic disorder characterized by facial dysmorphism, growth retardation, and mental deficiency. A seven-year-old girl had come to the Department of Pedodontics, Istanbul Medipol University, Faculty of Dentistry, Turkey, with a complaint of caries and bleeding of gingivae. The patient was mentally retarded. Extraoral features revealed distinctive facial appearance with a broad fore head, hypertelorism, broad nasal bridge, and beaked nose. Intraoral features observed were talons cusps in the upper lateral incisors, carious teeth, and plaque accumulation. Since the patient was mentally retarded, the dental treatment was done under GA. The treatment plan and dental management of this patient are discussed in this case report.

Style APA, Harvard, Vancouver, ISO itp.

Artykuły w czasopismach na temat „Syndrome de Rubinstein-Taybi”

Utwórz poprawne odniesienie w stylach APA, MLA, Chicago, Harvard i wielu innych