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 |
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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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