Presentation
Termination of pregnancy due to severe skeletal dysplasia.
Patient Data
Age: 18 weeks' gestation
Gender: Unknown
From the case:
Thanatophoric dysplasia
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Features of thanatophoric dysplasia type I:
- short limbs
- curved 'phone receiver' femora
- platyspondyly (flattened vertebrae)
- narrow chest with short ribs
- large skull, not cloverleaf-shaped
From the case:
Thanatophoric dysplasia
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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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