A curious case of asphyxiating thoracic dystrophy in an adult

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 followi...

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Bibliographic Details
Published in:Respirology case reports 2021, Vol.9 (12), p.e0876-e0876
Main Authors: Stranks, Lachlan, Barry, Simone, Yeo, Aeneas
Format: Report
Language:English
Online Access:Get full text
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Summary: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.
ISSN:2051-3380
2051-3380
DOI:10.1002/rcr2.876