Chondrodysplasia Punctata



- Discussion:
    - comprises a group of disorders characterized by multiple punctate calcifications in infancy;
    - skeletal manifestations include: skin, facial, ocular, and cardiac abnormalities;
    - characteristic punctate calcifications are seen on x-ray at birth and usually disappear by one year of age;

- Orthopaedic Manifestations:
    - unilateral & bilateral coxa vara frequently is associatted with assymetric shrotening of the femur;
    - congenital hemivertebra or congential unilateral bars are typically present giving rise to early progressive spinal deformities;
    - diff dx: spondyloepiphyseal dysplasia



Original Text by Clifford R. Wheeless, III, MD.

Last updated by Data Trace Staff on Thursday, September 8, 2011 12:37 pm