HYPERTRICHOSIS, ATROPHIC SKIN, ECTROPION, AND MACROSTOMIA (BARBER-SAYSYNDROME) - REPORT OF A NEW CASE

Citation
Sm. Santana et al., HYPERTRICHOSIS, ATROPHIC SKIN, ECTROPION, AND MACROSTOMIA (BARBER-SAYSYNDROME) - REPORT OF A NEW CASE, American journal of medical genetics, 47(1), 1993, pp. 20-23
Citations number
4
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
47
Issue
1
Year of publication
1993
Pages
20 - 23
Database
ISI
SICI code
0148-7299(1993)47:1<20:HASEAM>2.0.ZU;2-K
Abstract
We report on a child, born to a consanguineous parents, who presented with a multiple congenital anomalies (MCA) pattern consisting of sever e hypertrichosis, macrostomia, ectropion, and atrophic skin. To our kn owledge this is the third case with this combination of defects. The t wo previous cases were reported by Barber et al. Syndrome Identificat ion VIII(1):6-9,19821, and David et al. Am J Med Genet 41:192-195, 19 91!. (C) 1993 Wiley-Liss, Inc.