Cranio-oculo-fronto-nasal malformation: a new MCA condition?
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.
Lopes
V L
VL
Disciplina de Genética, Faculdade de Medicina do Triângulo Mineiro, Uberaba, MG, Brazil.
Campos
N L
NL
Maciel-Guerra
A T
AT
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*