Acrofacial Dysostosis
Mostrando 1-9 de 9 artigos, teses e dissertações.
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1. Disgenesias dentárias na síndrome Richieri-Costa-Pereira / Tooth abnormalities in the Richieri-Costa-Pereira syndrome
Objetivo: Investigar a prevalência de disgenesias dentárias em indivíduos com síndrome Richieri-Costa-Pereira. Material e Métodos: 13 indivíduos, registrados no Hospital de Reabilitação de Anomalias Craniofaciais - Universidade de São Paulo (HRAC-USP), Bauru Brasil, com síndrome Richieri-Costa-Pereira, de ambos os gêneros, de etnia branca, acima d
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 05/12/2011
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2. Postaxial acrofacial dysostosis (Miller) syndrome: a new case.
We describe a new case of postaxial acrofacial dysostosis (Miller) syndrome. This syndrome consists of mandibulofacial dysostosis, similar to that seen in Treacher Collins syndrome, and postaxial limb deficiency. The mode of inheritance remains uncertain.
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3. The Nager acrofacial dysostosis syndrome with the tetralogy of Fallot.
A male infant is described with mandibulofacial dysostosis and absent thumbs, consistent with the Nager acrofacial dysostosis syndrome. In addition, the tetralogy of Fallot was present. Major congenital heart malformations occur rarely in this syndrome.
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4. Autosomal recessive inheritance of Nager acrofacial dysostosis.
Nager acrofacial dysostosis is a variant of mandibulofacial dysostosis with severe micrognathia, malar hypoplasia, and radial limb defects. Most cases are sporadic, but autosomal recessive inheritance has been suggested. A family is reported in which two sibs are affected by this syndrome, presenting further evidence for autosomal recessive inheritance. The
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5. Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype.
A sibship with postaxial acrofacial dysostosis syndrome (Miller syndrome) is reported. In addition to the characteristic facial and limb defects, previously undescribed anomalies, including midgut malrotation, gastric volvulus, and renal anomalies, are recorded.
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6. Familial postaxial acrofacial dysostosis syndrome.
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7. Postaxial acrofacial dysostosis (Miller) syndrome.
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8. Nager acrofacial dysostosis.
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9. Autosomal dominant asymmetrical radial dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia)
A syndrome characterised by asymmetrical radial dysplasia, dysmorphic facies, conductive deafness, and external ear deformity is described in a mother and her daughter. This combination of anomalies has previously been reported in members of a single family. The disorder appears to be clinically and genetically distinct from others associated with radial dys