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.
|Number of pages||3|
|Journal||American Journal of Medical Genetics|
|State||Published - 1 Jan 1999|
- Elastic fibers
- Failure to thrive
- Status epilepticus
- Wrinkly skin syndrome