Greig cephalopolysyndactyly syndrome: A case report

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Date

2011-02-23

Authors

Karaman, Ali
Kahveci, Hasan
Laloğlu, Fuat

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Publisher

Uludağ Üniversitesi

Abstract

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.
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.

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Keywords

Greig cephalopolysyndactyly syndrome, Macrocephaly, Polysyndactyly, Greig sefalopolisindaktili sendromu, Makrosefali, Polisindaktili

Citation

Karaman, A. vd. (2011). "Greig cephalopolysyndactyly syndrome: A case report". Güncel Pediatri, 9(1), 47-49.

URI

https://dergipark.org.tr/tr/download/article-file/904908
 http://hdl.handle.net/11452/10569

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2011 Cilt 9 Sayı 1