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

Jaime Toral-López; Tania Córdoba-Cabeza; Maricela Villeda; Gabriel Cortes-Castillo; Juan Carlos Zenteno

doi:10.3233/PGE-13047

Journal of Pediatric Genetics, Table of Contents

J Pediatr Genet 2013; 02(01): 043-047
DOI: 10.3233/PGE-13047

Case Report

Georg Thieme Verlag KG Stuttgart – New York

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

Jaime Toral-López

^aDepartment of Medical Genetics, Centro Médico Ecatepec, ISSEMYM, Ecatepec, México

,

Tania Córdoba-Cabeza

^bDepartment of Pediatric Neurology, Centro Médico Ecatepec, ISSEMYM, Ecatepec, México

,

Maricela Villeda

^cDepartment of Maxillofacial Surgery, Centro Médico Ecatepec, ISSEMYM, Ecatepec, México

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Gabriel Cortes-Castillo

^cDepartment of Maxillofacial Surgery, Centro Médico Ecatepec, ISSEMYM, Ecatepec, México

,

Juan Carlos Zenteno

^dDepartment of Genetics-Research Unit, Institute of Ophthalmology “Conde de Valenciana” and Biochemistry, Faculty of Medicine, National Autonomous University of Mexico, México City, México

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Abstract

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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

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