| A Case of Thanatophoric Dysplasia. |
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Hae Sook Cha1, Hyun Hwa Kim1, Young Hee You1, Hyun Sook Lee1, Jeong Rae Kim2 |
1Department of Pediatrics, Veterans Hospital Korea
2Department of Pathology, Veterans Hospitalt Korea |
| Thanatophoric Dysplasia 1例 |
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차혜숙1, 김현화1, 유영희1, 이현숙1, 김정례2 |
1원호병원 소아과
2원호병원 병리과 |
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| Abstract |
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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 and disproportionately short arm and legs. The diagnosis was confirmed by clinical features, radiological and histological findings.
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| Key Words:
Thanatophoric dysplasia, Clinical, Radiological, Histological findings |
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