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Campomelic dysplasia

Jain, Vineeta; Sen, Biswaroopb

Journal of Pediatric Orthopaedics B: September 2014 - Volume 23 - Issue 5 - p 485–488
doi: 10.1097/BPB.0000000000000058
Miscellaneous

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.

aSports Injury Centre, Safdarjang Hospital

bDepartment of Orthopaedics, St Stephen’s Hospital, Delhi, India

The study was conducted at the Department of Orthopaedics, Maulana Azad Medical College and associated LN Hospital, Delhi, India.

Correspondence to Vineet Jain, MS, DNB, House No. 194, Sector 21-C, Faridabad, Haryana 121001, India Tel: +91 129 4042622; +91 981 0324416; fax: +91 11 26181917; e-mail: vineet.ortho@gmail.com

© 2014 by Lippincott Williams & Wilkins, Inc.