Mandibulofacial dysostosis (hemifacial microsomia) with cutaneous angiomas and choroidal depigmentation—a new syndrome

Abstract

The association of unilateral mandibulofacial dysostosis with cutaneous angiomas and ocular manifestations is reported here. the proband was born with fused mandible-maxilla on the left side and ipsilateral cutaneous angiomas of the neck. Choroidal depigmentation was found in the inferior part of the left fundus. Horner's syndrome, decreased corneal sensation and conductive hearing loss was also present in the same side. Chemical blood studies were normal. This malformation syndrome bridges the nosologic gap between the vascular phakomatosis (Sturge-Weber syndrome, Klippel-Trenaunay-Weber syndrome, retinal hemangiomas) and the first branchial arch syndromes (Goldenhar and Treacher-Collins syndromes).