Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis.
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.
de Macena Sobreira
Nara Lygia
NL
Department of Morphology, Medical Genetics Center Department of Pathology, Federal University of São Paulo, Brazil.
Alves
Maria Tereza S
MTS
Alvarez Perez
Ana Beatriz
AB
Brunoni
Decio
D
Cernach
Mirlene C S P
MCSP
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