Greig Sefalopolisindaktili Sendromu: Bir Olgu Sunumu

Öz

Girifl: Greig sefalopolisindaktili sendromu GCPS , çoklu konjenital anomalili bir pleiotropik sendromdur. Olgu Sunumu: Hasta yüksek alın, frontal şişlik, makrosefali, belirgin hipertelorizm, aşağı eğik palpebral fissürler ve geniş bir burun köküne sahipti. Ayakları bilateral kutanöz sindaktilili polidaktili gösterdi. Tartışma: GCPS otozomal dominant genetik modelli nadir bir durumdur. Primer bulguları, hipertelorizm, frontal şişliği olan makrosefali ve polisindaktiliyi içerir. Burada, GCPS’nin tipik klinik bulguları ile 1 haftalık kız bir olgu sunuldu.

Anahtar Kelimeler

• Greig sefalopolisindaktili sendromu,makrosefali,polisindaktili

Greig Cephalopolysyndactyly Syndrome: A Case Report

Öz

Introduction: The Greig cephalopolysyndactyly syndrome GCPS is a pleiotropic, multiple congenital anomaly syndrome. Case Report: The patient had high forehead, frontal bossing, macrocephaly, apparent hypertelorism, down-slanting palpebral fissures and a broad nasal root.The feet showed bilateral polydactyly with cutaneous syndactyly of the fifth digits. Conclusion: GCPS is a rare condition with an autosomal dominant mode of inheritance. The primary findings include hypertelorism, macrocephaly with frontalbossing, and polysyndactyly. Presented here is a case of a 1 week old female withtypical clinical manifestations of GCPS

Anahtar Kelimeler

• Greig cephalopolysyndactyly syndrome,macrocephaly,polysyndactyly

Kaynakça

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