Greig cephalopolysyndactyly syndrome: A family report
Küçük Resim Yok
Tarih
2010
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Greig cephalopolysyndactyly syndrome (GCPS) is an autosomal dominant condition characterized by distinct combination of craniofacial, hand and food malformations. It is caused by mutations of the gene GLI3, located on 7p13. The clinical features consistent with GCPS are typical craniofacial findings, post or preaxial polysyndactyly of the hands and feet. In this report we describe clinical and radiological findings of a Turkish family in which five members of three generations could be examined. Dysgenesis of the corpus callosum is diagnosed in one of the patients. A rare clinical manifestation, pectus excavatum, is also seen in two of the cases. Copyright © 2010 by Türkiye Klinikleri.
Açıklama
Anahtar Kelimeler
Funnel chest, GLI3 protein, human, Polydactyly, Syndactyly
Kaynak
Turkiye Klinikleri Pediatri
WoS Q Değeri
Scopus Q Değeri
Q4
Cilt
19
Sayı
1
