Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: A new MCA/MR syndrome?

Authors
Megarbane, A Haddad-Zebouni, S Nabbout, R Khoury, AH Traboulsi, EI
Citation
A. Megarbane et al., Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: A new MCA/MR syndrome?, AM J MED G, 83(2), 1999, pp. 82-87
Citations number
11
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
83
Issue
2
Year of publication
1999
Pages
82 - 87
Database
ISI
SICI code
0148-7299(19990312)83:2<82:MCMSSA>2.0.ZU;2-#
Abstract
We report on 2 male cousins with minor facial anomalies, microcephaly, colo bomatous microphthalmia, psychomotor retardation, short stature, and skelet al malformations. The children belong to a highly inbred family. We conclud e that these patients have a previously undescribed autosomal-recessive syn drome, Am. J, Med. Genet, 83:82-87, 1999, (C) 1999 Wiley-Liss, Inc.