title: Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis.
abstract: We describe a stillborn female with acrofacial dysostosis and frontonasal dysplasia. She had protrusion of the forehead, with marked hypertelorism and absence of the nose but with the rhinencephalon present. Autopsy showed wide cranial sutures, severe hydrocephalus with separation of the right and left hemispheres of the brain, preservation of the olfactory bulb and first and second cranial nerves. The child also had small kidneys bilaterally, rectal atresia and an absent anus with rectovaginal fistula. These clinical findings suggest a new form of acrofacial dysostosis.
authors.affiliation: Department of Morphology, Medical Genetics Center Department of Pathology, Federal University of São Paulo, Brazil.
authors.forename: Nara Lygia
authors.initials: NL
authors.lastname: de Macena Sobreira
authors.forename: Maria Tereza S
authors.initials: MTS
authors.lastname: Alves
authors.forename: Ana Beatriz
authors.initials: AB
authors.lastname: Alvarez Perez
authors.forename: Decio
authors.initials: D
authors.lastname: Brunoni
authors.forename: Mirlene C S P
authors.initials: MCSP
authors.lastname: Cernach
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D001848:Bone Diseases, Developmental / Q000473:pathology; D004677:Encephalocele / Q000473:pathology; D005145:Face / Q000002:abnormalities; D005260:Female; D005546:Forehead / Q000002:abnormalities*; D006801:Humans; D006849:Hydrocephalus / Q000473:pathology; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000473:pathology*; D008342:Mandibulofacial Dysostosis / Q000000981:diagnostic imaging / Q000473:pathology*; D009666:Nose / Q000002:abnormalities*; D011859:Radiography; D050497:Stillbirth; D014621:Vagina / Q000002:abnormalities