Thanatophoric dysplasia

Discussion:

Features suggestive of thanatophoric dysplasia. Based on the absence of a cloverleaf skull and significant skeletal underdevelopment with the extent of extremity bowing, a type I thanatophoric dysplasia is likely.

This is an example of one of the lethal skeletal dysplasias; in this instance, the baby passed away after 5 weeks.

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