Patil, S.J. and Bhat, V. and Dalal, Ashwin and Santosh, J.S. (2012) Confirmation of the Zechi-Ceide syndrome. American Journal of Medical Genetics Part A, 158A (6). pp. 1467-1471. ISSN 15524825

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Abstract

Atretic cephaloceles associated with multiple congenital anomalies are known to follow either autosomal dominant or autosomal recessive patterns of inheritance. Zechi-Ceide syndrome (OMIM 612916) is an autosomal recessive disorder, characterized by an occipital atretic cephalocele, characteristic facial features, and large feet. Here we describe a patient with findings fitting Zechi-Ceide syndrome, in whom some of the manifestations were also present in his mother, indicating either autosomal dominant inheritance with variable expression, X-linked inheritance, or a manifesting carrier of an autosomal recessive inheritance. Copyright © 2012 Wiley Periodicals, Inc.

Item Type:	Article
Depositing User:	Users 2 not found.
Date Deposited:	11 Sep 2015 05:17
Last Modified:	11 Sep 2015 05:17
URI:	http://cdfd.sciencecentral.in/id/eprint/483

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