An unusual phenotype in a case of Sheldon-Hall syndrome

Sheldon-Hall syndrome (SHS) is an ultra-rare genetic disease usually characterised by congenital arthrogryposis of autosomal dominant transmission. Researchers at the neuromuscular reference centre at the Hôpital Raymond Poincaré in Garches have identified a patient with SHS presenting with :

• a whole-body muscle imaging study showed no signs of primary muscle involvement,
• on the other hand, the electromyography results were clearly in favour of neurogenic damage,
• the genetic study revealed a mutation in the TNNT3 gene already known to give SHS.

This work contributes to a better phenotypic description of arthrogryposis syndromes.

 

Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant. Dabaj I, Carlier RY, Dieterich K et al. Front Genet. 2023 Mars.