Cerebral hemihypoplasia and nevus flammeus in a child with oromandibular limb hypogenesis syndrome type III.

ABSTRACT: Oromandibular limb hypogenesis syndrome (OMLH; OMIM 103300) encompasses a group of uncommon disorders characterized by malformations in the mouth, jaw and limbs. It has been associated with various entities such as gastroschisis, pulmonary hypoplasia, intestinal atresia, renal agenesis, hydrocephalus and other syndromes. We describe a boy of Mexican origin with features of OMLH. In addition, brain magnetic resonance imaging shows cerebral hemiatrophy and hemihypoplasia and an ipsilateral arachnoid cyst, as well as microcephaly and frontal nevus flammeus were observed. This association, to the best of our knowledge, has not been previously reported in the literature and could be part of a same spectrum of vascular defect with OMLH.

SUBMITTER: Toral-Lopez J 

PROVIDER: S-EPMC5020958 | biostudies-literature | 2013 Mar

REPOSITORIES: biostudies-literature