All issues > Volume 33(9); 1990

Original Article

J Korean Pediatr Soc. 1990;33(9):1294-1300. Published online September 30, 1990.

A case of Asphyxiating Thoracic Dystrophy.

Hyung Goo Cho¹, Hwang Min Kim¹, Jae Seung Yang¹, Jong Soo Kim¹, Whi Yul Cho², So Young Jin³

¹Department of Pediatrics, Yonsei University, Wonju College of Medicine, Wonju, Korea
²Department of Radiology, Yonsei University, Wonju College of Medicine, Wonju, Korea
³Department, of Pathology, Yonsei University, Wonju College of Medicine, Wonju, Korea

Received: February 9, 1990;  Accepted: May 30, 1990.

Abstract

Asphyxiating thoracic dystrophy, a rare form of bony dysplasia, is characterized by extreme constriction of thorax, short limbed dwarfism, abnormalities of pelvic bone in neonatal period, and progressive interstitial nephritis in childhood. The incidence of this syndrome has been estimated at 1 per 100,000 to 130,000 live births and more than 100 patients have been reported worldwide. Infants with asphyxiating thoracic dystrophy usually have tachypnea, cyanosis, and constricted th- orax. Almost all of the survivors are suffered form progressive interstial nephritis in childhood. We experienced a case of asphyxiating thoracic dystrophy in a 1 day old neonate who had tachypnea and cyanosis. Inspite of assisted ventilation for 4 weeks, he died without improvement. Postmortem examination disclosed hypoplasia and atelectasis in lung. A brief review of the related literature is presented.

Keywords :Asphyxiating thoracic dystrophy, Constricted thorax, Lung hypoplasia