Acromesomelic Dysplasia Syndrome. |
Hyung Ro Moon |
Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea |
Acromesomelic dysplasia 증후군 |
文烱魯 |
서울대학교 의과대학 소아과학교실 |
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Abstract |
A further case of acromesomelic dysplasia syndrome is reported in a twelve year old Korean boy born on January 15, 1971 at full term. His height was only 99.5 cm. on his visit to the outpatient department. The present case showed disproportionate shortening of the extremities, especially in the forearms, hands, shanks and feet together with most of the reported clinical and radiological features of Maroteaux type acromesomelic dysplasia (dwarfism) which include frontal prominence, low thoracic kyphosis, relatively large great toes, bowed forearms, limited elbow
extension, small thorax, high clavicles and corned epiphyses.
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Key Words:
Disproportionate dwarfism, Skeletal dysplasia, Acromesomelic |
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