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Article

Stüve-Wiedemann syndrome and related bent bone dysplasias.

Clinical genetics - 1 Jul 2012

Akawi N A, Ali B R, Al-Gazali L

Abstract excerpt

Stüve-Wiedemann syndrome (SWS) is a severe congenital skeletal dysplasia associated with life threatening dysautonomic manifestations. Newborns affected with this condition exhibit distinctive shortening and bowing of the long bones with reduced bone volume. The majority of affected newborns die early due to neuromuscular complications namely hyperthermia, apnea, and swallowing difficulties. In this review, we...

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Identifiers

PMID: 22300393
DOI: 10.1111/j.1399-0004.2012.01852.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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