Greig cephalopolysyndactyly syndrome: A case report Greig sefalopolisindaktili sendromu: Bir olgu sunumu
Guncel Pediatri, cilt.9, sa.1, ss.47-49, 2011 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 9 Sayı: 1
- Basım Tarihi: 2011
- Dergi Adı: Guncel Pediatri
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.47-49
- Anahtar Kelimeler: Greig cephalopolysyndactyly syndrome, Macrocephaly, Polysyndactyly
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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. © The Journal of Current Pediatrics.