Stüve–Wiedemann syndrome and related bent bone dysplasias

Akawi NA, Ali BR, Al‐Gazali L. Stüve–Wiedemann syndrome and related bent bone dysplasias. 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.