Thanatophoric Dysplasia Type 2 in Newborn | Rare Lethal Skeletal Disorder Explained
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YouTubeDr Shehzad paediatrician
Thanatophoric Dysplasia Type 2 in Newborn | Rare Lethal Skeletal Disorder Explained
This video presents a newborn diagnosed with Thanatophoric Dysplasia Type 2 (TD2) — a rare and typically lethal skeletal dysplasia. TD2 is characterized by severely shortened limbs, cloverleaf skull (kleeblattschädel deformity), and underdeveloped lungs. It is caused by mutations in the FGFR3 gene. The video highlights the key clinical ...
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