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A case of thanatophoric dysplasia.

Journal of the Korean Pediatric Society 1989;32(11):1598-1602.
Published online November 30, 1989.
A case of thanatophoric dysplasia.
H J Kwon, E K Won, J S Min, C H Choi
Department of Pediatrics, Seoul Adventist Hospital, Seoul, Korea
Thanatophoric Dysplasia 2례
권형진, 원은경, 민정식, 최창희
서울 위생병원 소아과
Received: 23 March 1989   • Accepted: 18 July 1989
Abstract
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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