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Mild growth retardation and developmental delay, microcephaly, and a distinctive facial appearance

✍ Scribed by Partington, Michael ;Anderson, Donald

Publisher: John Wiley and Sons
Year: 1994
Tongue: English
Weight: 294 KB
Volume: 49
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320490218

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✦ Synopsis

Abstract

We describe a brother and sister from one family and a girl from a second, unrelated family; they have a syndrome of pre‐ and postnatal growth deficiency, developmental delay, a friendly personality, microcephaly, and a distinctive facial appearance marked by thick eyebrows, full cheeks, and a short nose with the columella inserted below the nasal alae. We think this is a new syndrome probably inherited as an autosomal recessive trait. © 1994 Wiley‐Liss, Inc.

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