Neurological involvement in a child with the wrinkly skin syndrome

Am J Med Genet. 1999 Jan 1;82(1):31-3.

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Campylobacter Infections / complications
  • Campylobacter Infections / drug therapy
  • Child
  • Chromosomes, Human, Pair 2*
  • Consanguinity
  • Female
  • Gene Deletion
  • Humans
  • Intellectual Disability / genetics
  • Skin Abnormalities / genetics*
  • Status Epilepticus / genetics
  • Syndrome