All issues > Volume 23(9); 1980

Case Report

J Korean Pediatr Soc. 1980;23(9):748-752. Published online September 15, 1980.

Spondylometaphyseal Dyslpasia.

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

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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