Holoprosencephaly in an Egyptian baby with ectrodactyly-ectodermal dysplasia-cleft syndrome: a case report.

ABSTRACT:

Introduction

Ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome (OMIM No. 129900) is characterized by the triad of ectrodactyly, ectodermal dysplasia and facial clefting (of the lip and/or palate). Holoprosencephaly denotes a failure in the division of the embryonic forebrain (prosencephalon) into distinct lateral cerebral hemisphere. The association between ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome and holoprosencephaly is very rare. Here we report holoprosencephaly in an Egyptian infant with ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome.

Case presentation

An 11-month-old Egyptian female baby was referred to our institution for an evaluation of poor growth; the pregnancy and perinatal history were uneventful. On examination,

SUBMITTER: Metwalley Kalil KA 

PROVIDER: S-EPMC3281777 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature