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Journal of the Korean Pediatric Society 1980;23(9):748-752.
Published online September 15, 1980.
Spondylometaphyseal Dyslpasia.
Kyo Sun Kim, Baik Keun Lim, Duk Hee Kim, Byung Ill Lee, Dae Young Han, Ki Keun Oh
Department of Pediatrics, orthopedics and X-ray, Yonsei University College of Medicine, Seoul, Korea.
Abstract
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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