Costello syndrome: Report and review

Citation
Am. Van Eeghen et al., Costello syndrome: Report and review, AM J MED G, 82(2), 1999, pp. 187-193
Citations number
47
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
82
Issue
2
Year of publication
1999
Pages
187 - 193
Database
ISI
SICI code
0148-7299(19990115)82:2<187:CSRAR>2.0.ZU;2-G
Abstract
We describe a 34-year-old woman with mental retardation, short stature, mac rocephaly, a "coarse" face, hoarse voice, and redundant skin with deep palm ar and plantar creases who had evident Costello syndrome. Lacking papilloma ta, she had wartlike lesions of the skin. The previously reported patients with Costello syndrome are reviewed. Costello syndrome is probably an autos omal dominant disorder, either caused by a mutation in a single gene or by microdeletion. (C) 1999 Wiley-Liss, Inc.