| A Case of Achondroplasia. |
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Han Young Lee, Seon Ock Khang, Woo Gill Lee |
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Department of Pediatrics, Hanyang University，College of Medicine，Seoul，Korea |
| 軟骨無形成症 1 例 |
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이한영, 강선옥, 이우길 |
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한양대학교 의과대학 소아과학교실 |
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| Abstract |
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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.
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| Key Words:
Achondroplasia.
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