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Neurological involvement in a child with the wrinkly skin syndrome

✍ Scribed by Azuri, Joseph; Mizrachi, Avraham; Weintraub, Shlomo; Lerman-Sagie, Tally

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 12 KB
Volume: 82
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990101)82:1<31::aid-ajmg6>3.0.co;2-w

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✦ Synopsis

In 1973, a syndrome was reported comprising of wrinkled skin over the dorsum of hands, feet, and abdomen, reduced skin elasticity, skeletal involvement, craniofacial anomalies, mental and developmental delay, and failure to thrive. Only nine cases have been reported. Three additional cases with deletion 2q32 show some manifestations of this syndrome. We present another child with this syndrome with prominent neurological involvement manifested by mental retardation, microcephaly, and an episode of status epilepticus.

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