title: Campomelic dysplasia.
abstract: Campomelic dysplasia is a rare hereditary congenital osteochondral dysplasia characterized by abnormal bowing of the lower limbs, sex reversal in males, and other skeletal and extraskeletal abnormalities. It is usually fatal in the neonatal period because of respiratory insufficiency. The diagnosis is usually difficult because of its rare presentation and the prognosis is poor. We present such a case in a 1-month-old child with typical skeletal abnormalities, whose presentation was unusual because of later presentation of respiratory distress and lack of genitourinary abnormalities.
authors.affiliation: aSports Injury Centre, Safdarjang Hospital bDepartment of Orthopaedics, St Stephen's Hospital, Delhi, India.
authors.forename: Vineet
authors.initials: V
authors.lastname: Jain
authors.forename: Biswaroop
authors.initials: B
authors.lastname: Sen
mesh_terms: D055036:Campomelic Dysplasia / Q000150:complications / Q000175:diagnosis*; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008297:Male; D012131:Respiratory Insufficiency / Q000209:etiology