Stuve-Wiedemann syndrome (SWS; OMIM 601559), also named Schwatz-Jampel type 2 syndrome, is a severe autosomal recessive condition characterized by bowing of the lower limbs with cortical thickening, wide metaphyses, abnormal trabecular pattern, and camptodactyly. Additional features include dysautonomia symptoms with temperature instability, respiratory distress and sucking/swallowing difficulties in the first months of life (Stuve and Wiedemann, 1971). Unexplained hyperthermia and respiratory distress is a frequent cause of death (Gaspar et al., 2008; Jung et al., 2010). Few patients survive beyond their first year of life, with reports of progressive bone involvement and inability to walk. Indeed, the clinical modification of the phenotype with age is not well known.
- Stuve-Wiedemann syndrome
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Pathology and Forensic Medicine