MKY Mok, PT Yu, HM Luk

Abstract

Distal Arthrogryposis (DA), is a group of ten (DA1-DA10) rare, clinically and genetically heterogeneous autosomal dominant disorders primarily characterised by non-progressive congenital contractures of the distal limb joints without a neuromuscular disease. Among the ten subtypes, Distal Arthrogryposis Type 2B (DA2B), known as Sheldon-Hall syndrome is considered to be the most common type manifesting camptodactyly, talipes equinovarus, ulnar deviation of fingers, triangular face, small chin and short stature. However, individuals with a mutation in TNNI2, TNNT3, or MYH3 have phenotypes that can hardly be distinguished from one another. Here we have reported the first molecularly confirmed TNNT3 related distal arthrogryposis family in Hong Kong. The clinical phenotype and underlying mechanism have also been discussed.