Presentation
Short stature.
Patient Data
Age: 4 years
Gender: Male
From the case:
Chondrodysplasia punctata
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There are innumerable punctate calcific deposits in all epiphysis.
Case 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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