- 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;
