1. Stüve-Wiedemann syndrome and related bent bone dysplasias.
- Author
-
Akawi NA, Ali BR, and Al-Gazali L
- Subjects
- Bone Diseases, Developmental metabolism, Bone Diseases, Developmental pathology, Child, Preschool, Deglutition Disorders genetics, Deglutition Disorders metabolism, Deglutition Disorders pathology, Exostoses, Multiple Hereditary metabolism, Exostoses, Multiple Hereditary pathology, Humans, Infant, Infant, Newborn, Mutation, Osteochondrodysplasias metabolism, Osteochondrodysplasias pathology, Primary Dysautonomias genetics, Primary Dysautonomias metabolism, Primary Dysautonomias pathology, Bone Diseases, Developmental genetics, Exostoses, Multiple Hereditary genetics, NFI Transcription Factors genetics, Osteochondrodysplasias genetics, Receptors, OSM-LIF genetics
- Abstract
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., (© 2012 John Wiley & Sons A/S.)
- Published
- 2012
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