A Case of Achondroplasia(Thanatophoric dwarfism). |
Chun Sick Kang1, Kwang Sim1, Yeun Ki Kim1, Yong Il Lee1, Young Hee Choi2 |
1Department of Pediatrics, Han-Il Hospital, Korea. 2Department of Clinical Pathology, Han-Il Hospital, Korea. |
軟骨無形成症 1例 |
姜天植1, 沈 侊1, 金演基1, 李康一1, 崔玲姬2 |
1韓一病院 小兒科 2韓一病院 臨床病理科 |
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Abstract |
We experienced a case of thanatophoric dwarfism with a relatively large head and shortened limbs. The diagnosis was confirmed by clinical features, radiologic examinations and autopsy. A review of literature was made briefly. |
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