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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
a   Department of Medical Genetics, Centro Médico Ecatepec, ISSEMYM, Ecatepec, México
,
Tania Córdoba-Cabeza
b   Department of Pediatric Neurology, Centro Médico Ecatepec, ISSEMYM, Ecatepec, México
,
Maricela Villeda
c   Department of Maxillofacial Surgery, Centro Médico Ecatepec, ISSEMYM, Ecatepec, México
,
Gabriel Cortes-Castillo
c   Department of Maxillofacial Surgery, Centro Médico Ecatepec, ISSEMYM, Ecatepec, México
,
Juan Carlos Zenteno
d   Department 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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Further Information

Publication History

24 August 2012

07 January 2013

Publication Date:
27 July 2015 (online)

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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