title: Cranio-oculo-fronto-nasal malformation: a new MCA condition?
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.
authors.affiliation: Disciplina de Genética, Faculdade de Medicina do Triângulo Mineiro, Uberaba, MG, Brazil.
authors.forename: V L
authors.initials: VL
authors.lastname: Lopes
authors.forename: N L
authors.initials: NL
authors.lastname: Campos
authors.forename: A T
authors.initials: AT
authors.lastname: Maciel-Guerra
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D005124:Eye Abnormalities / Q000150:complications*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D009666:Nose / Q000002:abnormalities*; D012886:Skull / Q000002:abnormalities*