Affiliations: Department of Medical Genetics, Centro Médico Ecatepec, ISSEMYM, Ecatepec, México | Department of Pediatric Neurology, Centro Médico Ecatepec, ISSEMYM, Ecatepec, México | Department of Maxillofacial Surgery, Centro Médico Ecatepec, ISSEMYM, Ecatepec, México | Department of Genetics-Research Unit, Institute of Ophthalmology “Conde de Valenciana” and Biochemistry, Faculty of Medicine, National Autonomous University of Mexico, México City, México
Note: [] Corresponding author: Jaime Toral-López, Department of Medical Genetics, Centro Médico Ecatepec, ISSEMyM, Av del Trabajo S/N, Col. El Carmen, Ecatepec, Estado de México 55000, México. Tel.: +52 5558369910 2436; Fax: +52 5558369910; E-mail: [email protected].
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.
Keywords: Oromandibular limb hypogenesis syndrome, cerebral hemihypoplasia, frontal nevus flammeus, cutaneous syndactyly in hand and feet
