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Case Report

Hae Sook Cha, Hyun Hwa Kim, Young Hee You, Hyun Sook Lee, Jeong Rae Kim

Clin Exp Pediatr. 1984;27(5):521-526. Published online May 31, 1984

A case of thanatophoric dysplasia was presented with a brief review of literature. The baby showed characteristic clinical feature with relatively large head, prominent forehead, flattening of the bridge of the nose and extremly short arm and legs. X-ray showed marked shortening of rib, narrow chest, flattened vertebral body within lumbar region, rectangular shape of pelvic bone, prominent softtissue of abdomen...

A Case of Thanatophoric Dwarfism.

Cook Huh, Kwan Hwooy Cho, Bwak Keun Lim, Jong Soo Kim, Ho Keun Kim, Kwang Kil Lee

Clin Exp Pediatr. 1983;26(7):706-711. Published online July 31, 1983

Thonatophoric dwarfism is a severe form of micromelic dwardism which is in variably fatal in the neonatal period. We reported one case of thanatophoric dwarfism with review of literature. The diagnosis was confirmed by clinical features, radiological and histological find ings.

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