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A Case of Asphyxiating Thoracic Dystrophy Type II

Journal of the Korean Pediatric Society 1992;35(12):1756-1761.
Published online December 15, 1992.
A Case of Asphyxiating Thoracic Dystrophy Type II
Sang Mi Ha1, Soon Il Lee1, Moon Chul Kim2, Je Geun Chi3
1Department of Pediatrics, Sowha Children`s Hospital, Seoul, Korea
2Department of Radiology, Sowha Children`s Hospital, Seoul, Korea
3Department of Pathology, Seoul National University College of Medicine, Seoul, Korea
Asphyxiating Thoracic Dystrophy 제 2 형 1례
하상미1, 이순일1, 김문철2, 지제근3
1소화아동병원 소아과
2소화아동병원 방사선과
3서울대학교 의과대학 병리학교실
Abstract
Asphyxiating thoracic dystrophy (ATD) is a rare inherited malformation first described in 1954 by Jeune et al. ATD is a clinical and radiological entity characterized by disturbance of in utero endochondral bone formation; it appears with a small thoracic cage and pelvic and phalangeal abnormalities. The authors experienced a case of ATD in a 1 day old boy with the chief complaint of respiratory difficulty. The diagnosis was made on the basis of clinical features, radiologic and autopsy findings. The authors hereby report the case with a brief review of literatures.
Key Words: Asphyxiating thoracic dystrophy


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