Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum.
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.
Fisher
Richard B
RB
Department of Clinical Genetics, St James's University Hospital, Leeds Departments of Pediatrics Ophthalmology Neuroradiology, Hull Royal Infirmary, Hull, UK.
Pairaudeau
Peter W
PW
Innes
James R
JR
Bartlett
Richard J V
RJV
Crow
Yanick J
YJ
D000015:Abnormalities, Multiple / Q000473:pathology*; D061085:Agenesis of Corpus Callosum; D002675:Child, Preschool; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000473:pathology; D006801:Humans; D008850:Microphthalmos / Q000473:pathology; D012868:Skin Abnormalities / Q000473:pathology; D013577:Syndrome