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KMID : 0378019890320060033
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New Medical Journal
1989 Volume.32 No. 6 p.33 ~ p.36
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A Case of Camptomelic Dysplasia
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신항덕/Shin, Hang Duk
서원석/최우건/이병철/Seo, Won Seok/Choi, Woo Gun/Lee, Byumg Churl
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Abstract
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The Camptomelic dysplasia is characterized by short limbed dwarfism, peculiar face with cleft palate, numerous abnormalities of cartilage and bone including prenatal bowing of the lower extremities with pretibial dimpling, respiratory distress, generalized hypotonia and neonatal death.
We recently experienced a typical case of Camptomelic dysplasia in a 2 month old female infant who had short limbed dwarfism, prenatal bowing of the lower extremities with pretibial dimpling and mild generalized hypotonia.
A brief related literature was added.
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