Chondrodysplasia punctata

Case contributed by Dr Iqbal Naseem


A male child presented with complaints of short stature.

Patient Data

Age: 4
Gender: Male

Radiographs of b/l knee and ankle joints in AP and lateral projections were taken.

Radiographs of b/l knee and ankle joints were taken in AP and Lateral projections. Multiple punctate calcific deposits at epiphysis is noted.

Case Discussion

The findings in a 4 Y/O patient are compatible with chondrodysplasia punctata.

Chondrodysplasia punctata can be divided into Rhizomelic type and Non rhizomelic or 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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Case information

rID: 22801
Published: 25th Apr 2013
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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