title: Camptomelic dysplasia with sex reversal.
abstract: Camptomelic dysplasia is a disorder of the newborn characterized by congenital bowing and angulation of long bones together with other skeletal and extraskeletal defects. The affected newborn had dysmorphic features with bowing of the legs and bilateral talipes equinovarus. Radiology showed marked anterior bowing of both tibia with disproportionately short fibula, anterolateral bowing of the femurs and wide pelvic outlet with small iliac wings. She had sex reversal with normal female genitalia and 46, XY karyotype. Camptomelic dysplasia is generally considered to be a lethal skeletal dysplasia and most patients die in the neonatal period due to severe respiratory distress. Survivors may have learning difficulties, developmental delay, conductive hearing loss, myopia and recurrent chest infections. Because of its high associated mortality, prenatal diagnosis of camptomelic dysplasia is mandatory. The birth of a child with skeletal dysplasia is an emotionally difficult experience for parents.
authors.affiliation: Department of Pediatrics, Sir Salimullah Medical College, Dhaka.
authors.forename: N A
authors.initials: NA
authors.lastname: Banu
authors.forename: S
authors.initials: S
authors.lastname: Khatoon
authors.forename: E
authors.initials: E
authors.lastname: Qadir
authors.forename: M M
authors.initials: MM
authors.lastname: Rahman
authors.forename: M A
authors.initials: MA
authors.lastname: Khan
authors.forename: M Z
authors.initials: MZ
authors.lastname: Islam
authors.forename: M
authors.initials: M
authors.lastname: Shameem
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D003937:Diagnosis, Differential; D012734:Disorders of Sex Development; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010009:Osteochondrodysplasias / Q000175:diagnosis*