| A Case of Thanatophoric Dysplasia. |
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Eun Sil Kim1, Hyun Joo Choi1, Mi Ran Park1, Jae Yun Kim1, In Sang Jeon1, Kwang Jeon Kim1, Bum Woo Yum2 |
1Department of Pediatrics, Chung Gu Sung Sim Hospital, Seoul, Korea
2Department of Pathology, College of Medicin公，Korea University, Seoul, Korea |
| Thanatophoric Dysplasia 1례 |
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김은실1, 최현주1, 박미란1, 김재윤1, 전인상1, 김광전1, 염범우2 |
1청구성심병원 소아과
2고려대학교 의과대학 병리학교실 |
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Received: 29 June 1990 • Accepted: 18 August 1990 |
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| Abstract |
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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. And this helped to differentiate it from
the other short limb dwarf conditions.
We report a case of thanatophoric dysplasia with a brief review of literatures. |
| Key Words:
Thanatophoric dysplasia, fatal neonatal dwarfism |
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