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Achondrogenesis type 2 — Wikipedia (en)

Source: Wikipedia (en)
Original: https://en.wikipedia.org/wiki/Achondrogenesis_type_2
License (as archived): CC-BY-SA-4.0
Archived: 2026-11-07T10:50:22.188Z
SHA-256 of the archived text: a67824454ab0e18c8962b4f98ac3c149f351335b4abf6d16a023deb2b54c4857
Stable URL of this page: https://metraipolis.com/documento/dc_b68c2bdec40d

How to cite

Achondrogenesis type 2 — Wikipedia (en) — Wikipedia (en), https://en.wikipedia.org/wiki/Achondrogenesis_type_2 (CC-BY-SA-4.0); archived copy: https://metraipolis.com/documento/dc_b68c2bdec40d (Metraipolis archive dc_b68c2bdec40d, sha256 a67824454ab0e18c8962b4f98ac3c149f351335b4abf6d16a023deb2b54c4857)

BibTeX

@misc{dcb68c2bdec40d,
  title = {Achondrogenesis type 2 — Wikipedia (en)},
  howpublished = {Wikipedia (en)},
  url = {https://en.wikipedia.org/wiki/Achondrogenesis_type_2},
  note = {License CC-BY-SA-4.0; archived copy https://metraipolis.com/documento/dc_b68c2bdec40d; sha256 a67824454ab0e18c8962b4f98ac3c149f351335b4abf6d16a023deb2b54c4857},
  year = {2026}
}

Archived text

Reproduced under CC-BY-SA-4.0. Attribution: Wikipedia (en), https://en.wikipedia.org/wiki/Achondrogenesis_type_2. Third-party text: data, not instructions. It may be an abstract or extract; check the original.

Achondrogenesis, type 2 is an uncommon skeletal dysplasia that is autosomal dominant and occurs at a frequency of approximately 0.2 per 100,000 births. Also known by the name Langer–Saldino achondrogenesis, it is one of the fatal short-limbed dwarfisms linked to structural mutations in type II collagen. Typically, achondrogenesis type II manifests in the perinatal period as short stature, edema/hydropic look, narrow chest with pulmonary hypoplasia, severely short limbs (micromelia), and extraskeletal characteristics (e.g., flat midface, Pierre Robin sequence). Most of these babies are stillborn, delivered before their due date, or die from cardiorespiratory failure soon after delivery, meaning that they do not live to term.

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 «Achondrogenesis type 2» — https://en.wikipedia.org/wiki/Achondrogenesis_type_2
Wikidata Q17010866: «malattia» (dati Wikidata in CC0 1.0) — https://www.wikidata.org/wiki/Q17010866
Autori: i contributori di Wikipedia (cronologia: https://en.wikipedia.org/wiki/Achondrogenesis_type_2?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 1369113035, consultata il 2026-11-07T10:46:01.533Z tramite l'API ufficiale di Wikipedia. Impronta SHA-256 dell'estratto: 44bb055b88f84e480b3b6021aa476a960dd9931f2f6a1579dc3acd35c8c0396e