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| Mattos,Eduardo P.; Sanseverino,Maria Teresa V.; Magalhães,José Antônio A.; Leite,Júlio César L.; Félix,Temis Maria; Todeschini,Luiz Alberto; Cavalcanti,Denise P.; Schüler-Faccini,Lavinia. |
| Campomelic dysplasia (CD) is an autosomal, dominantly inherited, skeletal abnormality belonging to the subgroup of bent bone dysplasias. In addition to bowed lower limbs, CD typically includes the following: disproportionate short stature, flat face, micrognathia, cleft palate, bell-shaped thorax, and club feet. Up to three quarters of 46, XY individuals may be sex-reversed. Radiological signs include scapular and pubic hypoplasia, narrow iliac wings, spaced ischia, and bowed femora and tibiae. Lethal CD is usually due to heterozygous mutations in SOX9, a major regulator of chondrocytic development. We present a detailed clinical and molecular characterization of nine Brazilian CD patients. Infants were either stillborn (n = 2) or died shortly after birth... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Campomelic dysplasia; Skeletal dysplasia; Osteochondrodysplasias; SOX9; Prenatal diagnosis. |
| Ano: 2015 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572015000100014 |
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