Thanatophoric dysplasia, type I

S. Manohar, MD

Madurai, India.

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:

 

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Severe platyspondyly 

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Short ribs

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Macrocrania with frontal bossing and depressed nasal bridge

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Post natal radiographs were confirmatory.

 

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