Neurological involvement in a child with the wrinkly skin syndrome.
Am J Med Genet
; 82(1): 31-3, 1999 Jan 01.
Article
em En
| MEDLINE
| ID: mdl-9916839
ABSTRACT
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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Base de dados:
MEDLINE
Assunto principal:
Anormalidades da Pele
/
Cromossomos Humanos Par 2
Idioma:
En
Ano de publicação:
1999
Tipo de documento:
Article