Skip Navigation LinksHome > September 2014 - Volume 23 - Issue 5 > Campomelic dysplasia
Journal of Pediatric Orthopaedics B:
doi: 10.1097/BPB.0000000000000058
Miscellaneous

Campomelic dysplasia

Jain, Vineeta; Sen, Biswaroopb

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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.

© 2014 Wolters Kluwer Health | Lippincott Williams & Wilkins

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