A curious case of asphyxiating thoracic dystrophy in an adult. Issue 12 (10th November 2021)

• Record Type: Journal Article
• Authors: Stranks, Lachlan; Barry, Simone; Yeo, Aeneas
• Is Part Of: Respirology case reports. Volume 9:Issue 12(2021)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2021-11-10
• Subjects: ATD -- chondrodysplasia -- genetic -- respiratory failure -- restrictive lung disease; Respiratory organs -- Diseases -- Periodicals; 616.2005
• DOI: 10.1002/rcr2.876
• Languages: English
• ISSNs: 2051-3380

Abstract

Abstract: Asphyxiating thoracic dystrophy (ATD), also known as Jeune syndrome, is a rare autosomal recessive chondrodysplasia that most commonly manifests as shortening of long bones and ribs, as well as frequent extra‐skeletal organ involvement. It is typically diagnosed in infancy or early childhood following episodes of respiratory distress or failure, in conjunction with characteristic physical findings, and is often fatal. The genetic heterogeneity of this disease, however, means there is varying severity of symptoms and physical manifestations. In this report, we describe a 57‐year‐old man with his first presentation of respiratory failure, with a history and physical findings consistent with ATD, a diagnosis previously unknown to the patient. Abstract : Asphyxiating thoracic dystrophy (ATD), also known as Jeune syndrome, is a rare recessively inherited disorder that is most commonly detected in infancy and is often fatal. In this report, we describe an adult patient with his first presentation of respiratory failure and a presumptive diagnosis of ATD.