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Achondrogenesis

Case contributed by Dr Brendon Friesen

Presentation

20 weeks gestational age ?Achondrogenesis.

Patient Data

Age: 20 weeks gestation
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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