1. Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis.
- Author
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de Macena Sobreira NL, Alves MTS, Alvarez Perez AB, Brunoni D, and Cernach MCSP
- Subjects
- Bone Diseases, Developmental pathology, Encephalocele pathology, Face abnormalities, Female, Humans, Hydrocephalus pathology, Infant, Newborn, Mandibulofacial Dysostosis diagnostic imaging, Radiography, Stillbirth, Vagina abnormalities, Abnormalities, Multiple pathology, Forehead abnormalities, Limb Deformities, Congenital pathology, Mandibulofacial Dysostosis pathology, Nose abnormalities
- 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.
- Published
- 2008
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