title: [Stüve-Wiedemann syndrome in two siblings: focusing on a male patient with the longest actual survival rate].
abstract: BACKGROUND
  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.
  
  
  BACKGROUND
  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.
  
  
  BACKGROUND
  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.
  
  
  METHODS
  For the present only symptomatic therapy is available: extended intensive care during infancy, supportive pediatric orthopedics later on.
authors.affiliation: Abteilung Bildgebende Diagnostik, Kinderkrankenhaus Park Schönfeld, Kassel. m.reither@park-schoenfeld.de
authors.forename: M
authors.initials: M
authors.lastname: Reither
authors.forename: M
authors.initials: M
authors.lastname: Urban
authors.forename: K S
authors.initials: KS
authors.lastname: Kozlowski
authors.forename: M
authors.initials: M
authors.lastname: Pritsch
authors.forename: F-K
authors.initials: FK
authors.lastname: Tegtmeyer
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000293:Adolescent; D000367:Age Factors; D003422:Critical Care; D003680:Deglutition Disorders / Q000209:etiology; D003937:Diagnosis, Differential; D005260:Female; D005334:Fever; D005385:Fingers / Q000002:abnormalities; D005598:Fractures, Spontaneous / Q000209:etiology; D006801:Humans; D007007:Hypohidrosis / Q000209:etiology; D007223:Infant; D008297:Male; D009123:Muscle Hypotonia / Q000209:etiology; D010009:Osteochondrodysplasias / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics / Q000401:mortality; D013902:Radiography, Thoracic; D012131:Respiratory Insufficiency / Q000209:etiology; D017741:Survivors; D013577:Syndrome