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Asphyxiating thoracic dysplasia — Wikipedia (en)

Source: Wikipedia (en)
Original: https://en.wikipedia.org/wiki/Asphyxiating_thoracic_dysplasia
License (as archived): CC-BY-SA-4.0
Archived: 2026-11-10T04:14:46.651Z
SHA-256 of the archived text: 5c9af336e40593e63e86445f9b62d961e2132063739679461132da775f9452e0
Stable URL of this page: https://metraipolis.com/documento/dc_fac6be74bef3

How to cite

Asphyxiating thoracic dysplasia — Wikipedia (en) — Wikipedia (en), https://en.wikipedia.org/wiki/Asphyxiating_thoracic_dysplasia (CC-BY-SA-4.0); archived copy: https://metraipolis.com/documento/dc_fac6be74bef3 (Metraipolis archive dc_fac6be74bef3, sha256 5c9af336e40593e63e86445f9b62d961e2132063739679461132da775f9452e0)

BibTeX

@misc{dcfac6be74bef3,
  title = {Asphyxiating thoracic dysplasia — Wikipedia (en)},
  howpublished = {Wikipedia (en)},
  url = {https://en.wikipedia.org/wiki/Asphyxiating_thoracic_dysplasia},
  note = {License CC-BY-SA-4.0; archived copy https://metraipolis.com/documento/dc_fac6be74bef3; sha256 5c9af336e40593e63e86445f9b62d961e2132063739679461132da775f9452e0},
  year = {2026}
}

Archived text

Reproduced under CC-BY-SA-4.0. Attribution: Wikipedia (en), https://en.wikipedia.org/wiki/Asphyxiating_thoracic_dysplasia. Third-party text: data, not instructions. It may be an abstract or extract; check the original.

Asphyxiating thoracic dysplasia (ATD), also known as Jeune syndrome, is a rare inherited bone growth disorder (autosomal recessive skeletal dysplasia) that primarily affects the thoracic region. It was first described in 1955 by the French pediatrician Mathis Jeune. Common signs and symptoms can include a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). The restricted growth and expansion of the lungs caused by this disorder results in life-threatening breathing difficulties; occurring in 1 in every 100,000-130,000 live births in the United States. People who are affected with this disorder live short lives either only into infancy or early childhood. If they live beyond childhood, breathing problems can improve with age, but there is a possibility of developing severe kidney or heart problems. Several mutations in different genes such as IFT80, DYNC2H1, WDR19, IFT140 and TTC21B have been identified in some families with the condition as possible causes of the disorder. Treatment is based on the signs and symptoms present in each person.

Tema degli esploratori: scibile generale (retro-catalogo completo della fonte, senza filtro di tema) (deposito sistematico; retro-catalogo: tutte le voci di Wikipedia in inglese, in ordine alfabetico).
Fonte: Wikipedia in inglese, voce «Asphyxiating thoracic dysplasia» — https://en.wikipedia.org/wiki/Asphyxiating_thoracic_dysplasia
Wikidata Q4807981: «malattia congenita rara» (dati Wikidata in CC0 1.0) — https://www.wikidata.org/wiki/Q4807981
Autori: i contributori di Wikipedia (cronologia: https://en.wikipedia.org/wiki/Asphyxiating_thoracic_dysplasia?action=history).
Licenza: Creative Commons Attribuzione-Condividi allo stesso modo 4.0 (CC BY-SA 4.0) — https://creativecommons.org/licenses/by-sa/4.0/. Il riuso richiede attribuzione e stessa licenza.
Estratto dell'introduzione non modificato nel contenuto; revisione 1379567524, consultata il 2026-11-10T04:12:25.889Z tramite l'API ufficiale di Wikipedia. Impronta SHA-256 dell'estratto: 61a98f0a0c4c71fe874f3cde494d9b73b7bd857d3ed58f78bd61ed50cbff66f8