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Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum. | LitMetric

Focal dermal hypoplasia with subependymal heterotopia and hypoplastic corpus callosum.

Clin Dysmorphol

Department of Clinical Genetics, St James's University Hospital, Leeds Departments of Pediatrics Ophthalmology Neuroradiology, Hull Royal Infirmary, Hull, UK.

Published: January 2007

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.

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Source
http://dx.doi.org/10.1097/01.mcd.0000220617.93520.bbDOI Listing

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