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

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.

• Authors: T Yamamoto, J Tohyama, T Koeda, Y Maegaki, Y Takahashi
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 56 Issue 1 Pg. 6-9 (Mar 13 1995) ISSN: 0148-7299 [Print] United States
• PMID: 7747786 (Publication Type: Case Reports, Journal Article, Review)

Topics

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