| Spondylometaphyseal Dyslpasia. |
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Kyo Sun Kim1, Baik Keun Lim1, Duk Hee Kim1, Byung Ill Lee2, Dae Young Han2, Ki Keun Oh3 |
1Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.
2Department of orthopedics, Yonsei University College of Medicine, Seoul, Korea
3Department of X-ray, Yonsei University College of Medicine, Seoul, Korea |
| 척추골간단 이형성증 |
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김교순1, 임백근1, 김덕희1, 이병일2, 한대용2, 오기근3 |
1연세대학교 소아과학교실
2연세대학교 정형외과학교실
3연세대학교 방사선과학교실 |
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| Abstract |
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There sibs with identical features of short-limbed dwarfism, a normal skull and face and normal intelligence are described. On the basis of the radiological and clinical characteristics, the condition must be included within the group of Spondylomephyseal dysplasia. In contract to the familial cases described up to now in which the mode of inheritance was autosomal dominant, the trait in the three children described here was transmitted as autosomal recessive. |
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