Chondrodysplasia punctata

Discussion:

The appearances are most compatible with chondrodysplasia punctata.

Chondrodysplasia punctata can be divided into rhizomelic type and non rhizomelic (Conradi-Hunnerman type). Spectrum varies from lethal to non lethal type with variable inheritance ranging from autosomal to X-linked recessive type. Calcific stippling of cartilage and peri-articular soft tissues is often a common feature.

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