Campomelic Dysplasia: Case report

Campomelic dysplasia is a rare osteochondrodysplasia, which is included in the lethal osteochondrodysplasias group. Mutations in SOX9 gene are responsible for this disorder and its inheritance mechanism is autosomal dominant. Campomelicdysplasia is characterized by congenital bowing and angulations of long bones, tracheobronchial tree abnormalities, ambiguous genitalia, dislocated hips and other minor abnormalities. Prognosis is poor in spite of suitable management. Death is usually produced by respiratory failure due to thoracic malformations. The early in utero diagnosis through prenatal ultrasonography and its confirmation by conventional X-ray are both essential for an interdisciplinary management. We present a case of a male newborn with campomelic dysplasia and its radiological diagnostic approach.