Stüve-Wiedemann syndrome in two siblings: focusing on a male patient with the longest actual survival rate

Klinische Pädiatrie
M ReitherF-K Tegtmeyer

Abstract

We report on two siblings with Stüve-Wiedemann syndrome (SWS). The older patient, a 16-year-old boy, is -- as to our knowledge -- the longest-term survivor of this syndrome worldwide. The younger sister with the same clinical and radiographic findings died at the age of 10 months. Characteristic clinical symptoms are: muscular hypotonia, camptodactyly; respiratory insufficiency, swallowing difficulties; reduced sweating with heat intolerance, episodes of hyperthermia. Typical radiographic findings are: progressive bone bowing, unusual bone fractures, abnormal trabecular pattern, middle face hypoplasia. The SWS is identical with the Schwartz-Jampel syndrome (SJS) type 2, which is gene-located on chromosome 1. So far further genetic details of the SWS can be expected in the near future. The genetic transmission is autosomal recessive. In inbred high risk populations the occurrence of the SWS is increased. For the present only symptomatic therapy is available: extended intensive care during infancy, supportive pediatric orthopedics later on.

Citations

Jun 12, 2008·American Journal of Medical Genetics. Part a·Isabel Mendes GasparRaoul C M Hennekam
May 8, 2010·Clinical Genetics·C JungV Cormier-Daire
Feb 4, 2012·Clinical Genetics·N A AkawiL Al-Gazali

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