Achondrogenesis

Case contributed by Dr Brendon Friesen

Presentation

20 weeks gestational age. ?Achondrogenesis

Patient Data

Age: 20 weeks gestation
Modality: X-ray

Only the clavicles are ossified.

Case Discussion

Severe skeletal dysplasia (Achondrogenesis) - almost complete absence of ossification (only clavicles are seen).

Differential includes hypophosphatasia.

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Case Information

rID: 38416
Case created: 19th Jul 2015
Last edited: 7th Oct 2015
Inclusion in quiz mode: Included

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