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The clinical atlas of Greig cephalopolysyndactyly syndrome

✍ Scribed by Katherine Balk; Leslie G. Biesecker

Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
549 KB
Volume
146A
Category
Article
ISSN
1552-4825

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✦ Synopsis

Abstract

Greig cephalopolysyndactyly syndrome (GCPS) is a rare multiple congenital anomaly syndrome that is inherited in an autosomal dominant pattern and is caused by haploinsufficiency of the GLI3 gene. The syndrome typically includes preaxial or mixed pre‐ and postaxial polydactyly and cutaneous syndactyly, ocular hypertelorism, and macrocephaly in its typical forms, but sometimes includes hydrocephalus, seizures, mental retardation, and developmental delay in more severe cases. Patients with milder forms of GCPS can have subtle craniofacial dysmorphic features that are difficult to distinguish from normal variation. This article presents the spectrum of dysmorphic findings in GCPS highlighting some of its key presenting features to familiarize clinicians with the variable expressivity of the condition. Β© 2008 Wiley‐Liss, Inc.

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