Oro-fasio-dijital sendrom tip 1: olgu sunumu

Amaç & Hipotez:Oro-fasio-dijital sendrom (OFDS) ağız boşluğu (yarık damak, yüksek damak, dilde lobulasyon, dilde hamartom), yüz (frontal çıkıklık, fasiyal asimetri, hipertelorizm) ve parmak anomalileri (sindaktili, brakidaktili, polidaktili) ile karakterize bir grup konjenital anomalidir.

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Temel Bulgular & Veri:OFDS 1 X’e bağlı dominant geçer.

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Sonuç & Katkı:Bu yazıda, nadir görülmesi nedeniyle OFDS1’li bir olgu sunulmuştur.

🔬Tür:Laboratuvar & Saha Deneyi

📍Kapsam:Genişletilmiş Akademik Örneklem

⚙️Değişkenler:Alan Parametreleri

Özet

Oro-fasio-dijital sendrom (OFDS) ağız boşluğu (yarık damak, yüksek damak, dilde lobulasyon, dilde hamartom), yüz (frontal çıkıklık, fasiyal asimetri, hipertelorizm) ve parmak anomalileri (sindaktili, brakidaktili, polidaktili) ile karakterize bir grup konjenital anomalidir. OFDS 1 X’e bağlı dominant geçer. OFDS 1 nadir bir sendromdur ve yaklaşık 1/250.000 canlı doğumda görülmektedir. Bu yazıda, nadir görülmesi nedeniyle OFDS1’li bir olgu sunulmuştur.

Abstract

Oro-facio-digital syndrome (OFDS), a group of congenital anomalies, is characterized by malformations of the oral cavity (cleft palate, high arched palate, tongue lobulation, hamartoma on the tongue), face (frontal bossing, facial asymmetry, hypertelorism), and digits (syndactyly, brachydactyly, polydactyly). OFDS 1 is an X-linked dominant condition. OFDS 1 is a rare syndrome, occurring in approximately 1/250,000 live births. Being a rare entity, this paper presents a case of OFDS 1.

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Bu Makaleye Atıf Yap

KARAMAN, A., KAHVECİ, H., BIYIK, Ç. Y. (2011). Oro-fasio-dijital sendrom tip 1: olgu sunumu. Bakırköy Tıp Dergisi, Cilt: 7 - Sayı: 3, 119–121. https://ajindex.com/articles/129416

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Kaynakça (12)

Jones KL (Ed). Oral-facial-digital Syndrome. In: Smith’s Recognizable Patterns of Human Malformation. Philadelphia: Elsevier Saunders 2006; p. 292-297
Papillon-Léage, Psaume J. Une malformation hereditaire de la maqueuse buccale: brides et freins anormaux. Rev Stomatol 1954; 55: 209-227
Toriello HV. Oral-facial-digital syndromes, 1992. Clin Dysmorph 1993; 2: 95-105
Usefian E, Khozeime F. A case of the rare orofaciodigital syndrome type 1. J Research Med Sci 2005; 10: 231-235
Gabrielli O, Ficcadenti A, Fabrizzi G, et al. Child with oral, facial, digital, and skeletal anomalies and psychomotor delay: a new OFDS form? Am J Med Genet 1994; 53: 290-293
Gluszkiewicz E, Jezela-Stanek A, Marszal E, Jamroz E. Orofaciodigital syndrome type 1: clinical characteristics of 2 cases and its diagnostics overlap with other malformation syndromes. Case Rep Clin Pract Rev 2006; 7: 39-43
Thauvin-Robinet C, Cossee M, Cormier-Daire V, et al. Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: A French and Belgian collaborative study. J Med Genet 2006; 43: 54-61
Mihci E, Tacoy S, Ozbilim G, Franco B. Oral-Facial Digital Syndrome Type 1. Indian Pediatr 2007; 44: 854-856
Feather SA, Woolf AS, Donnai D, Malcolm S, Winter RM. The oralfacial- digitalsyndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformation, maps to Xp22.2-Xp22.3. Hum Mol Genet 1997; 6: 1163-1167
Tagliani MM, Gomide MR, Carrara CF. Oral-facial-digital syndrome type 1: oral features in 11 patients submitted to clinical and radiographic examination. Cleft Palate Craniofac J 2010; 47: 162- 166
Holub M, Potocki L, Bodamer OA. Central nervous system malformations in oral-facial-digital syndrome, type 1. Am J Med Genet 2005; 136: 218
Leao MJ, Ribeiro-Silva ML. Orofaciodigital syndrome type I in a patient with severe CNS defects. Pediatr Neurol 1995; 13: 247-251.