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.
Department of Pathology             Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.
N A
NA
Akawi
B R
BR
Ali
L
L
Al-Gazali
D001848:Bone Diseases, Developmental / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D002675:Child, Preschool; D003680:Deglutition Disorders / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D005097:Exostoses, Multiple Hereditary / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D051839:NFI Transcription Factors / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D054969:Primary Dysautonomias / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D053606:Receptors, OSM-LIF / Q000235:genetics*
C077305:CTF-1 transcription factor; D051839:NFI Transcription Factors; D053606:Receptors, OSM-LIF