Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis.
Clin Dysmorphol
; 17(2): 145-148, 2008 Apr.
Article
en En
| MEDLINE
| ID: mdl-18388791
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Nariz
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Deformidades Congénitas de las Extremidades
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Frente
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Disostosis Mandibulofacial
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
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Newborn
Idioma:
En
Revista:
Clin Dysmorphol
Asunto de la revista:
TERATOLOGIA
Año:
2008
Tipo del documento:
Article
País de afiliación:
Brasil