| Title | Neurological involvement in a child with the wrinkly skin syndrome. | | Author(s) | Azuri J, Mizrachi A, Weintraub S, Lerman-Sagie T | | Institution | Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel. | | Source | Am J Med Genet 1999 Jan 1; 82(1):31-3. | | MeSH | Campylobacter Infections
Child
Chromosomes, Human, Pair 2
Consanguinity
Female
Gene Deletion
Humans
Mental Retardation
Skin Abnormalities
Status Epilepticus
Syndrome
| | 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. | | Language | eng | | Pub Type(s) | Case Reports
Journal Article
Review
| | PubMed ID | 9916839 |
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