The Dubowitz syndrome--one more case

Klin Padiatr. 1987 Sep-Oct;199(5):370-2. doi: 10.1055/s-2008-1026822.

Abstract

A boy with the Dubowitz syndrome is presented. This autosomal recessive disorder is characterized by variable degrees of intrauterine and postnatal growth retardation, microcephaly, mild mental retardation, hyperactivity, "eczema", characteristic facial appearance and combination of minor abnormalities. Thirty-eight cases of this syndrome have been reported in the literature. Symptoms and difficulties in differential diagnosis are discussed.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Blepharoptosis / genetics*
  • Dwarfism / genetics*
  • Genes, Recessive
  • Humans
  • Infant
  • Intellectual Disability / genetics*
  • Male
  • Syndrome