Cranio-oculo-fronto-nasal malformation: a new MCA condition?
V L Lopes1, N L Campos, A T Maciel-Guerra
1Disciplina de Genética, Faculdade de Medicina do Triângulo Mineiro, Uberaba, MG, Brazil.
Abstract:
We describe a boy born to non-consanguineous parents who presents a singular clinical picture characterized by severe mental retardation, craniosynostosis, ocular abnormalities, and frontonasal malformation. This seems to be a previously undescribed condition of unknown aetiology which should be mainly distinguished from craniofrontonasal dysplasia, and frontofacionasal dysostosis.
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