Thanatophoric dysplasia
Diagnosis almost certain
Disclosures
- updated 24 Aug 2022:
Nothing to disclose
Updates to Case Attributes
Body
was changed:
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 onaway after 5 weeks.
-<p>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.</p><p>This is an example of one of the lethal skeletal dysplasias; in this instance, the baby passed on after 5 weeks.</p>- +<p>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.</p><p>This is an example of one of the lethal skeletal dysplasias; in this instance, the baby passed away after 5 weeks.</p>