Cerebral hemihypoplasia and nevus flammeus in a child with oromandibular limb hypogenesis syndrome type III.
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.
Department of Medical Genetics, Centro Médico Ecatepec, ISSEMYM, Ecatepec, México.
Jaime
J
Toral-López
Department of Pediatric Neurology, Centro Médico Ecatepec, ISSEMYM, Ecatepec, México.
Tania
T
Córdoba-Cabeza
Department of Maxillofacial Surgery, Centro Médico Ecatepec, ISSEMYM, Ecatepec, México.
Maricela
M
Villeda
Department of Maxillofacial Surgery, Centro Médico Ecatepec, ISSEMYM, Ecatepec, México.
Gabriel
G
Cortes-Castillo
Department of Genetics-Research Unit, Institute of Ophthalmology "Conde de Valenciana" and Biochemistry, Faculty of Medicine, National Autonomous University of Mexico, México City, México.
Juan Carlos
JC
Zenteno
Oromandibular limb hypogenesis syndrome; cerebral hemihypoplasia; cutaneous syndactyly in hand and feet; frontal nevus flammeus