Ontology highlight
ABSTRACT:
SUBMITTER: Daly SB
PROVIDER: S-EPMC4188168 | biostudies-literature | 2014 Aug
REPOSITORIES: biostudies-literature
Molecular syndromology 20140708 5
Distal arthrogryposis (DA) is a group of rare, clinically and genetically heterogeneous disorders primarily characterized by congenital contractures of the distal limb joints without a neuromuscular disease. Mutations in at least 8 different genes have been shown to cause DA. Here, we report a 4-generation Indian family with 18 affected members presenting variable features of camptodactyly, brachydactyly, syndactyly, decreased flexion palmar creases, ulnar deviation of the hands, sandal gaps and ...[more]