Neurological involvement in a child with the wrinkly skin syndrome

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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


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
Issue number1
StatePublished - 1 Jan 1999
Externally publishedYes


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


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