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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 provide an overall picture on the clinical, including long-term management, molecular and cellular aspects of SWS and discuss briefly other related bent bone dysplasias.

Original publication

DOI

10.1111/j.1399-0004.2012.01852.x

Type

Journal article

Journal

Clin Genet

Publication Date

07/2012

Volume

82

Pages

12 - 21

Keywords

Bone Diseases, Developmental, Child, Preschool, Deglutition Disorders, Exostoses, Multiple Hereditary, Humans, Infant, Infant, Newborn, Mutation, NFI Transcription Factors, Osteochondrodysplasias, Primary Dysautonomias, Receptors, OSM-LIF