Tadeu Coutinho, Conrado Milani Coutinho, Larissa Milani Coutinho
Faculdade de Medicina, Universidade Federal de Juiz de Fora, Juiz de Fora (MG), Brasil. coutinho@nextwave.com.br
Revista brasileira de ginecologia e obstetrícia : revista da Federação Brasileira das Sociedades de Ginecologia e Obstetrícia 2008 MayCamptomelic dysplasia belongs to a heterogeneous and rare group of lethal skeletal dysplasias, characterized by abnormal development of bones and cartilages. It is caused by a mutation in gene Sox9 (SRY-like HMG [high-mobility group] BOX 9) of chromosome 17 and it is transmitted as an autosomal dominant trait. Its main characteristics are the shortening and bowing of the long bones, principally the lower limbs. It is also associated with other severe skeletal and extraskeletal malformations. Karyotype study may reveal sex reversal. The majority of carriers die during the fetal and early neonatal periods. Ultrasound is essential to elucidate a prenatal diagnosis.
Tadeu Coutinho, Conrado Milani Coutinho, Larissa Milani Coutinho. Prenatal diagnosis of camptomelic dysplasia: a case report]. Revista brasileira de ginecologia e obstetrícia : revista da Federação Brasileira das Sociedades de Ginecologia e Obstetrícia. 2008 May;30(5):257-60
PMID: 19142501
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