Ahmert SERT, M. Emre ATABEK, Özgür PİRGON, Musa SİLAHLI

Otopalatodigital sendrom tip I: Bir olgu sunumu

Amaç: Otopalatodigital sendrom, iskelet displazisi, işitme kaybı ve damak anomalileri, atipik yüz görünümü, hafif derecede mental retardasyon ile seyreden X’e bağlı nadir bir hastalıktır. 1976’da sendromun daha letal bir varyantı olan tip II Fitch ve ark tarafından tanımlanmıştır. Sendromdan sorumlu olan filamin A genindeki mutasyonlardır. Son zamanlarda genetik araştırmalar sorumlu mutant genin X kromozomunun distal bölgesinde olduğunu göstermiştir. Klinik ve prognoz bu genin ekspresyonuna göre değişmektedir. Otopalatodigital sendrom teşhis edilen bir olgunun, nadir görülmesi nedeniyle tartışılması amaçlandı. Olgu sunumu: Bu makalede otopalatodigital sendromun klinik özelliklerini taşıyan bir kız vaka takdim edilmektedir. Sonuç: Literatürde kız vakaların tanımlanması gen ekspresyonu ve X genindeki inaktivasyonla açıklanmaktadır. İşitme kaybı ve dismorfik özellikleri olan vakaların otopalatodigital sendrom açısından değerlendirilmesi önemlidir.

Anahtar Kelimeler:

Doğumsal anormallikler, Polidaktili, Kadın, Süt çocuğu, Sendrom

Otopalatodigital syndrome type I: A case report

Objective: Otopalatodigital syndrome is a rare X-linked disorder characterized by skeletal dysplasia, hearing loss, and palatal anomalies, mildly mental retardation and atypical facial dysmorphism. Type II, lethal variant of this syndrome was defined by Fitch et al. in 1976. Mutations in the filamin A gene are responsible for this syndrome. Recently, genetic investigations exhibited that responsible mutant gene is on the distal X chromosome. Clinical finding and prognosis change according to the gene expression. It was aimed to discuss a rare case which was diagnosed as otopalatodigital syndrome. Case report: A female case who has clinical features of otopalatodigital syndrome has been presented in this report. Conclusion: It is explained female patients who reported in the literature by gene expressions and inactivated X chromosome. It is important to evaluate the cases with hearing loss and atypical facial dysmorphism as otopalatodigital syndrome.

Keywords:

Congenital Abnormalities, Polydactyly, Female, Infant, Syndrome,

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