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: Nara Lygia de Macena Sobreira, Maria Tereza S Alves, Ana Beatriz Alvarez Perez, Decio Brunoni, Mirlene C S P Cernach
• Journal: Clinical dysmorphology (Clin Dysmorphol) Vol. 17 Issue 2 Pg. 145-148 (Apr 2008) ISSN: 0962-8827 [Print] England
• PMID: 18388791 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (pathology)
• Bone Diseases, Developmental (pathology)
• Encephalocele (pathology)
• Face (abnormalities)
• Female
• Forehead (abnormalities)
• Humans
• Hydrocephalus (pathology)
• Infant, Newborn
• Limb Deformities, Congenital (pathology)
• Mandibulofacial Dysostosis (diagnostic imaging, pathology)
• Nose (abnormalities)
• Radiography
• Stillbirth
• Vagina (abnormalities)