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Thanatophoric dysplasia is a short limb dwarf condition in which respiratory distress is responsible
for death in the first hours or days after birth.
We experienced a case of thanatophoric dysplasia who presented striking disproportion of trunk
and extremities. The head was relatively large, the trunk was narrow and normal length, and the
extremities were markedly shortened.
The radiologic feature of this dysplasia was characteristic.... |
