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A Case of Achondroplasia.

Journal of the Korean Pediatric Society 1984;27(12):1234-1238.
Published online December 31, 1984.
A Case of Achondroplasia.
Han Young Lee, Seon Ock Khang, Woo Gill Lee
Department of Pediatrics, Hanyang University,College of Medicine,Seoul,Korea
軟骨無形成症 1 例
이한영, 강선옥, 이우길
한양대학교 의과대학 소아과학교실
Abstract
Achondroplasia, the commonest type of dwarfism, is an autosomal-dominant skeletal dysplasia in which the primary defect is endochondral bone formation. Characteristic clinical findings are large head size, rhizomelic shortening of the limbs, frontal bossing & flat nasal bridge with X-ray findings of brachycephaly, thickness of long bone, squared iliac bone and decreased interpediculate distance of spine at distal lumbar level compared with proximal. Authors experienced a case of achondroplasia with typical clinical X-ray findings and without the evidence of hydrocephalus on brain sector scan. A brief review of literatures was given on this subject.
Key Words: Achondroplasia.


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