BRACHMANN-DELANGE SYNDROME WITH NORMAL IQ

Citation
Hm. Saal et al., BRACHMANN-DELANGE SYNDROME WITH NORMAL IQ, American journal of medical genetics, 47(7), 1993, pp. 995-998
Citations number
18
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
47
Issue
7
Year of publication
1993
Pages
995 - 998
Database
ISI
SICI code
0148-7299(1993)47:7<995:BSWNI>2.0.ZU;2-P
Abstract
The Brachmann-de Lange syndrome is a disorder with a high degree of cl inical variability, generally associated with moderate to severe menta l retardation. To date, 7 previous cases of Brachmann-de Lange syndrom e with normal intelligence (IQ > 70) have been described. We report th e eighth case of Brachmann-de Lange syndrome with normal intelligence. In reviewing the literature, consistent clinical manifestations seen in these 8 patients that are of prognostic value are the absence of si gnificant limb anomalies and birth weight > 2,500 g. (C) 1993 Wiley-Li ss, Inc.