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Mental retardation, growth retardation, unusual nose, and open mouth: An autosomal recessive entity

✍ Scribed by Fowzan S. Alkuraya

Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 186 KB
Volume: 152A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33575

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✦ Synopsis

Abstract

In this paper, I describe the investigations in three members of an extended consanguineous family from Saudi Arabia, in which nine members show severe mental retardation, long eyelashes, high nasal bridge, underdeveloped malae, low hanging columella, thin upper vermillion, and everted lower vermillion, retrognathia, and an open mouth apparently caused by mandibular dentoalveolar protrusion. Pedigree analysis makes it likely that this is an autosomal recessively inherited disorder. A detailed literature search failed to show a similar entity. © 2010 Wiley‐Liss, Inc.

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