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Stuve-Wiedemann syndrome

*Gene map locus 5p13.1
STWS
SWS
Schwartz-Jampel syndrome, neonatal
Schwartz-Jampel syndrome, type 2
Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome
[Clinical features: bowing of the lower limbs, with internal cortical thickening; wide metaphyses with abnormal trabecular pattern; camptodactyly ; episodic hyperthermia; respiratory and feeding distress]
[Inheritance: autosomal recessive]

Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome
Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedemann syndrome in a male infant
Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedemann syndrome in a male infant
American Journal of Human Genetics
Cases Journal
Cases Journal

   
Congenital contractures and distinctive phenotypic features consistent with Stuve-Wiedemann syndrome in a male infant
   
Cases Journal
   


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Edited by Aldo Campana, April 23, 2014