| A case of thanatophoric dysplasia. |
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H J Kwon, E K Won, J S Min, C H Choi |
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Department of Pediatrics, Seoul Adventist Hospital, Seoul, Korea |
| Thanatophoric Dysplasia 2례 |
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권형진, 원은경, 민정식, 최창희 |
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서울 위생병원 소아과 |
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Received: 23 March 1989 • Accepted: 18 July 1989 |
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| Abstract |
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Thanatophric dysplasia have a prominent forehead, depressed nasal bridge, and bulging eyes. The
limbs are extremly short and held extended from the body. The chest is small and pear-shaped.
Affected infants are hypotonic and lack primitive reflexes. Most affected infants are still born or die
within hours of birth. Two cases of thanatophoric dysplasia are presented with gidelines for diagno-
sis. A review of the literature is made. |
| Key Words:
Thanatophoric dysplasia |
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