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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Wiley
2021-12-01
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| Series: | Respirology Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/rcr2.876 |
| _version_ | 1818681851620884480 |
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| author | Lachlan Stranks Simone Barry Aeneas Yeo |
| author_facet | Lachlan Stranks Simone Barry Aeneas Yeo |
| author_sort | Lachlan Stranks |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-17T10:09:31Z |
| format | Article |
| id | doaj.art-b5cc3de17a004d32b100f3c18362509a |
| institution | Directory Open Access Journal |
| issn | 2051-3380 |
| language | English |
| last_indexed | 2024-12-17T10:09:31Z |
| publishDate | 2021-12-01 |
| publisher | Wiley |
| record_format | Article |
| series | Respirology Case Reports |
| spelling | doaj.art-b5cc3de17a004d32b100f3c18362509a2022-12-21T21:53:05ZengWileyRespirology Case Reports2051-33802021-12-01912n/an/a10.1002/rcr2.876A curious case of asphyxiating thoracic dystrophy in an adultLachlan Stranks0Simone Barry1Aeneas Yeo2Department of Thoracic Medicine Royal Adelaide Hospital Adelaide South Australia AustraliaDepartment of Thoracic Medicine Royal Adelaide Hospital Adelaide South Australia AustraliaDepartment of Thoracic Medicine Royal Adelaide Hospital Adelaide South Australia AustraliaAbstract 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.https://doi.org/10.1002/rcr2.876ATDchondrodysplasiageneticrespiratory failurerestrictive lung disease |
| spellingShingle | Lachlan Stranks Simone Barry Aeneas Yeo A curious case of asphyxiating thoracic dystrophy in an adult Respirology Case Reports ATD chondrodysplasia genetic respiratory failure restrictive lung disease |
| title | 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_short | A curious case of asphyxiating thoracic dystrophy in an adult |
| title_sort | curious case of asphyxiating thoracic dystrophy in an adult |
| topic | ATD chondrodysplasia genetic respiratory failure restrictive lung disease |
| url | https://doi.org/10.1002/rcr2.876 |
| work_keys_str_mv | AT lachlanstranks acuriouscaseofasphyxiatingthoracicdystrophyinanadult AT simonebarry acuriouscaseofasphyxiatingthoracicdystrophyinanadult AT aeneasyeo acuriouscaseofasphyxiatingthoracicdystrophyinanadult AT lachlanstranks curiouscaseofasphyxiatingthoracicdystrophyinanadult AT simonebarry curiouscaseofasphyxiatingthoracicdystrophyinanadult AT aeneasyeo curiouscaseofasphyxiatingthoracicdystrophyinanadult |