Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum
Richard B Fisher1, Peter W Pairaudeau, James R Innes
1Department of Clinical Genetics, St James's University Hospital, Leeds Departments of Pediatrics Ophthalmology Neuroradiology, Hull Royal Infirmary, Hull, UK.
Clinical Dysmorphology
|December 13, 2006
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.
