2004-07-14-14 Thanatophoric dysplasia © Manohar www.thefetus.net/
Thanatopohoric dysplasia, type I
S. Manohar MD,
This is a case of thanatophoric dysplasia first diagnosed antenatally at 32 weeks of gestation. It shows the following features:
Tetramicromelia with rhizo mesomelic shortening with telephone receiver shaped femurs:
Macrocrania with frontal bossing and depressed nasal bridge
Post natal radiographs were confirmatory.