Neurological involvement in a child with the wrinkly skin syndrome

Joseph Azuri, Avraham Mizrachi, Shlomo Weintraub, Tally Lerman-Sagie

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)31-33
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume82
Issue number1
DOIs
StatePublished - 1 Jan 1999
Externally publishedYes

Keywords

  • Elastic fibers
  • Failure to thrive
  • Microcephaly
  • Status epilepticus
  • Wrinkly skin syndrome

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