Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum.

Abstract

A case is reported with right-sided abnormalities involving the brain, eyelid, eye, face and chest. The features described are similar to those found in conditions including focal dermal hypoplasia, microphthalmia with linear skin defects, oculocerebrocutaneous syndrome and terminal osseous dysplasia and pigmentary defects. However, none of these conditions, fully explains the collection of abnormalities found in this patient.

• Authors: Richard B Fisher, Peter W Pairaudeau, James R Innes, Richard J V Bartlett, Yanick J Crow
• Journal: Clinical dysmorphology (Clin Dysmorphol) Vol. 16 Issue 1 Pg. 59-61 (Jan 2007) ISSN: 0962-8827 [Print] England
• PMID: 17159518 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (pathology)
• Agenesis of Corpus Callosum
• Child, Preschool
• Female
• Focal Dermal Hypoplasia (pathology)
• Humans
• Microphthalmos (pathology)
• Skin Abnormalities (pathology)
• Syndrome