Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis

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dc.contributor.author Macena Sobreira, Nara Lygia de [UNIFESP]
dc.contributor.author Alves, Maria Teresa de Seixas [UNIFESP]
dc.contributor.author Perez, Ana Beatriz Alvarez [UNIFESP]
dc.contributor.author Brunoni, Decio [UNIFESP]
dc.contributor.author Cernach, Mirlene Cecilia Soares Pinho [UNIFESP]
dc.date.accessioned 2018-06-15T16:52:47Z
dc.date.available 2018-06-15T16:52:47Z
dc.date.issued 2008-04-01
dc.identifier http://dx.doi.org/10.1097/MCD.0b013e3282f0b758
dc.identifier.citation Clinical Dysmorphology. Philadelphia: Lippincott Williams & Wilkins, v. 17, n. 2, p. 145-148, 2008.
dc.identifier.issn 0962-8827
dc.identifier.uri http://repositorio.unifesp.br/11600/43356
dc.description.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. en
dc.format.extent 145-148
dc.language.iso eng
dc.publisher Lippincott Williams & Wilkins
dc.relation.ispartof Clinical Dysmorphology
dc.rights Acesso restrito
dc.subject acrolfacial anomalies en
dc.subject frontonasal dysplasia en
dc.subject mandibulofacial clysostosis en
dc.title Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis en
dc.type Artigo
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.description.affiliation Univ Fed Sao Paulo, Escola Paulista Med, Ctr Genet Med, Dept Morfol, BR-04020041 Sao Paulo, Brazil
dc.description.affiliation Univ Fed Sao Paulo, Dept Pathol, BR-04020041 Sao Paulo, Brazil
dc.description.affiliationUnifesp Univ Fed Sao Paulo, Escola Paulista Med, Ctr Genet Med, Dept Morfol, BR-04020041 Sao Paulo, Brazil
dc.description.affiliationUnifesp Univ Fed Sao Paulo, Dept Pathol, BR-04020041 Sao Paulo, Brazil
dc.identifier.doi 10.1097/MCD.0b013e3282f0b758
dc.description.source Web of Science
dc.identifier.wos WOS:000254510500017



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