Clinical and Experimental Pediatrics

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Original Article

Eun Sil Kim, Hyun Joo Choi, Mi Ran Park, Jae Yun Kim, In Sang Jeon, Kwang Jeon Kim, Bum Woo Yum

Clin Exp Pediatr. 1990;33(11):1593-1597. Published online November 30, 1990

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....

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