A curious case of asphyxiating thoracic dystrophy in an adult.
ATD
chondrodysplasia
genetic
respiratory failure
restrictive lung disease
Journal
Respirology case reports
ISSN: 2051-3380
Titre abrégé: Respirol Case Rep
Pays: United States
ID NLM: 101631052
Informations de publication
Date de publication:
Dec 2021
Dec 2021
Historique:
received:
20
09
2021
revised:
21
10
2021
accepted:
26
10
2021
entrez:
19
11
2021
pubmed:
20
11
2021
medline:
20
11
2021
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 34795902
doi: 10.1002/rcr2.876
pii: RCR2876
pmc: PMC8580865
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e0876Informations de copyright
© 2021 The Authors. Respirology Case Reports published by John Wiley & Sons Australia, Ltd on behalf of The Asian Pacific Society of Respirology.
Déclaration de conflit d'intérêts
None declared.
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