Camptomelic dysplasia with sex reversal.
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Date
2005-01-08
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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.
Description
Mymensingh Medical Journal.
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Citation
Banu NA, Khatoon S, Qadir E, Rahman MM, Khan MA, Islam MZ, Shameem M. Camptomelic dysplasia with sex reversal. Mymensingh Medical Journal. 2005 Jan; 14(1): 80-3