A curious case of asphyxiating thoracic dystrophy in an adult

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 childhoo...

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Autores principales:	Lachlan Stranks, Simone Barry, Aeneas Yeo
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	ATD chondrodysplasia genetic respiratory failure restrictive lung disease Diseases of the respiratory system RC705-779
Acceso en línea:	https://doaj.org/article/b5cc3de17a004d32b100f3c18362509a
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spelling	oai:doaj.org-article:b5cc3de17a004d32b100f3c18362509a2021-11-25T13:46:30ZA curious case of asphyxiating thoracic dystrophy in an adult2051-338010.1002/rcr2.876https://doaj.org/article/b5cc3de17a004d32b100f3c18362509a2021-12-01T00:00:00Zhttps://doi.org/10.1002/rcr2.876https://doaj.org/toc/2051-3380Abstract 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.Lachlan StranksSimone BarryAeneas YeoWileyarticleATDchondrodysplasiageneticrespiratory failurerestrictive lung diseaseDiseases of the respiratory systemRC705-779ENRespirology Case Reports, Vol 9, Iss 12, Pp n/a-n/a (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	ATD chondrodysplasia genetic respiratory failure restrictive lung disease Diseases of the respiratory system RC705-779
spellingShingle	ATD chondrodysplasia genetic respiratory failure restrictive lung disease Diseases of the respiratory system RC705-779 Lachlan Stranks Simone Barry Aeneas Yeo A curious case of asphyxiating thoracic dystrophy in an adult
description	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.
format	article
author	Lachlan Stranks Simone Barry Aeneas Yeo
author_facet	Lachlan Stranks Simone Barry Aeneas Yeo
author_sort	Lachlan Stranks
title	A curious case of asphyxiating thoracic dystrophy in an adult
title_short	A curious case of asphyxiating thoracic dystrophy in an adult
title_full	A curious case of asphyxiating thoracic dystrophy in an adult
title_fullStr	A curious case of asphyxiating thoracic dystrophy in an adult
title_full_unstemmed	A curious case of asphyxiating thoracic dystrophy in an adult
title_sort	curious case of asphyxiating thoracic dystrophy in an adult
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/b5cc3de17a004d32b100f3c18362509a
work_keys_str_mv	AT lachlanstranks acuriouscaseofasphyxiatingthoracicdystrophyinanadult AT simonebarry acuriouscaseofasphyxiatingthoracicdystrophyinanadult AT aeneasyeo acuriouscaseofasphyxiatingthoracicdystrophyinanadult AT lachlanstranks curiouscaseofasphyxiatingthoracicdystrophyinanadult AT simonebarry curiouscaseofasphyxiatingthoracicdystrophyinanadult AT aeneasyeo curiouscaseofasphyxiatingthoracicdystrophyinanadult
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A curious case of asphyxiating thoracic dystrophy in an adult

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