Hasan KAHVECİ, Ali KARAMAN, Fuat LALOĞLU

Greig cephalopolysyndactyly syndrome: A case report

Giriş: 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. (Güncel Pediatri 2011; 9: 47-9)

Greig sefalopolisindaktili sendromu: Bir olgu sunumu

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 frontal bossing, and polysyndactyly. Presented here is a case of a 1 week old female with typical clinical manifestations of GCPS. (Journal of Current Pediatrics 2011; 9: 47-9)

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