Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome?

Am J Med Genet. 1995 Mar 13;56(1):6-9. doi: 10.1002/ajmg.1320560103.

Abstract

We report on a boy with multiple epiphyseal dysplasia (MED), mild short stature, small head, mental retardation and congenital nystagmus associated with other visual problems. These manifestations were similar to those seen in Lowry-Wood syndrome (LWS). He also had hypoplasia of the corpus callosum and leukonychia totalis, which were not described in the previous cases.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Agenesis of Corpus Callosum
  • Child, Preschool
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Nails, Malformed
  • Nystagmus, Pathologic / genetics
  • Osteochondrodysplasias / diagnosis*
  • Osteochondrodysplasias / genetics
  • Skull / abnormalities
  • Syndrome