Camptomelic dysplasia: prenatal diagnosis by ultrasound.

We report a case of camptomelic dysplasia, an extremely rare lethal congenital bony dysplasia with an incidence of about 2 per million live births. Diagnosis was made antenatally at a gestational age of about 25 weeks by sonographic demonstration of anterior bowing of long bones, hypoplastic scapulae, bilateral talipes equinovarus, and normally ossified unfractured ribs. The mother elected to terminate the pregnancy, and the diagnosis was confirmed on clinical and radiographic examination of the fetus. Radiological features and differential diagnoses of this entity are discussed.

Citation

Gupta Natasha, Rajeev Ghai, Dheeraj Shah, P S Kiran. Camptomelic dysplasia: prenatal diagnosis by ultrasound. Skeletal radiology. 2006 Sep;35(9):699-701

Mesh Tags

PMID: 16172861

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