Authors
Citation
F. Natacci et al., New case of the Richieri-Costa/Guion-Almeida syndrome, AM J MED G, 83(5), 1999, pp. 419-421
Citations number
11
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299
→ ACNP
Volume
83
Issue
5
Year of publication
1999
Pages
419 - 421
Database
ISI
SICI code
0148-7299(19990423)83:5<419:NCOTRS>2.0.ZU;2-3
Abstract
We describe a boy with multiple congenital anomalies/mental retardation (MC
A/MR) syndrome. He has growth retardation, microbrachycephaly, coloboma of
the iris, and typical facial anomalies including cleft lip/palate. This phe
notype overlaps with that described by Richieri-Costa and Guion-Almeida in
three Brazilian brothers. The new patient provides further evidence of the
existence of this rare clinical entity. Am. J. Med. Genet. 83:419-421, 1999
. (C) 1999 Wiley-Liss, Inc.