| A Case of Acrodysostosis |
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Suk Hyun Lee, Chang Won Oh, Kyoung Sim Kim, Ki Bok Kim |
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Department of Pediatrics, Kwangju Christian Hospital, Kwangju, Korea |
| 선단이골증 1례 |
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이숙현, 오창원, 김경심, 김기복 |
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광주기독병원 소아과 |
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| Abstract |
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Acrodysostosis is a rare multiple congenital malformation syndrome with peripheral dysostosis, nasal hypoplasia, mental retardation and growth failure. In 1968, Maroteaux and Malamut first described this disorder in three patients, and thus far now over 30 published cases have been reported worldwide.
Radiographic changes include severe shortening of metacarpals, metatarsals, and phalages, cone-shaped epiphyses of the hands and feet, premature fusion of the epiphyses, and advanced bone age. Most patients do relatively well except for the problems of mental deficiency and arthritic complaints. Progressive restriction of movement of the hands, elbows, and spine may occur.
Recently, we experienced a case of acrodysostosis in and 11-year-old boy who presented with short stature, short hands and feet, nasal hypoplasia, mental retardation, and typical radiographic findings including severe shortening of metacarpals, metatarsals and phalanges, cone-shaped epiphyses of the hands and feet. |
| Key Words:
Acrodysostosis, Peripheral dysostosis, Nasal hypoplasia, Mental retardation |
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