Chondrodysplasia Punctata Wheeless

Description: 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;