title: [Prenatal diagnosis of camptomelic dysplasia: a case report].
abstract: Camptomelic 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.
authors.affiliation: Faculdade de Medicina, Universidade Federal de Juiz de Fora, Juiz de Fora (MG), Brasil. coutinho@nextwave.com.br
authors.forename: Tadeu
authors.initials: T
authors.lastname: Coutinho
authors.forename: Conrado Milani
authors.initials: CM
authors.lastname: Coutinho
authors.forename: Larissa Milani
authors.initials: LM
authors.lastname: Coutinho
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging*; D016216:Ultrasonography, Prenatal