Thanatophoric dysplasia

Case contributed by Dr Yair Glick

Presentation

Termination of pregnancy due to severe skeletal dysplasia.

Patient Data

Age: 18 weeks' gestation
X-ray

Features of thanatophoric dysplasia type I:

Case Discussion

Termination of pregnancy at week 18 due to severe skeletal dysplasia seen on antenatal ultrasound.
The parents refused a post-mortem examination.
The skeletal features are all consistent with thanatophoric dysplasia type I.

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