Neurological involvement in a child with the wrinkly skin syndrome

Citation
J. Azuri et al., Neurological involvement in a child with the wrinkly skin syndrome, AM J MED G, 82(1), 1999, pp. 31-33
Citations number
8
Categorie Soggetti
Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF MEDICAL GENETICS
ISSN journal
01487299 → ACNP
Volume
82
Issue
1
Year of publication
1999
Pages
31 - 33
Database
ISI
SICI code
0148-7299(19990101)82:1<31:NIIACW>2.0.ZU;2-G
Abstract
In 1973, a syndrome was reported comprising of wrinkled skin over the dorsu m of hands, feet, and abdomen, reduced skin elasticity, skeletal involvemen t, craniofacial anomalies, mental and developmental delay, and failure to t hrive. Only nine cases have been reported. Three additional cases with dele tion 2q32 show some manifestations of this syndrome, We present another chi ld with this syndrome with prominent neurological involvement manifested by mental retardation, microcephaly, and an episode of status epilepticus. (C ) 1999 Wiley-Liss, Inc.