MILD GROWTH-RETARDATION AND DEVELOPMENTAL DELAY, MICROCEPHALY, AND A DISTINCTIVE FACIAL APPEARANCE

Authors
PARTINGTON M ANDERSON D
Citation
M. Partington et D. Anderson, MILD GROWTH-RETARDATION AND DEVELOPMENTAL DELAY, MICROCEPHALY, AND A DISTINCTIVE FACIAL APPEARANCE, American journal of medical genetics, 49(2), 1994, pp. 247-250
Citations number
NO
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
49
Issue
2
Year of publication
1994
Pages
247 - 250
Database
ISI
SICI code
0148-7299(1994)49:2<247:MGADDM>2.0.ZU;2-H
Abstract
We describe a brother and sister from one family and a girl from a sec ond, unrelated family; they have a syndrome of pre- and postnatal grow th deficiency, developmental delay, a friendly personality, microcepha ly, 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 autosom al recessive trait. (C) 1994 Wiley-Lies, Inc.