Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.

Distal arthrogryposis type I (DA1) is a disorder characterized by congenital contractures of the hands and feet for which few genes have been identified. Here we describe a five-generation family with DA1 segregating as an autosomal dominant disorder with complete penetrance. Genome-wide linkage analysis using Affymetrix GeneChip Mapping 10K data from 12 affected members of this family revealed a multipoint LOD(max) of 3.

Simplifying head and neck microvascular reconstruction.

Background: Free-tissue transfer has become the preferred method of head and neck reconstruction but is a technique that is considered to use excessive hospital resources.

Methods: This study is a retrospective review of 125 consecutive free flaps in 117 patients over a 16-month period at a tertiary care university hospital.

Results: Defects of the oral cavity/oropharynx (60%), midface (9%), hypopharynx (15%), or cervical and facial skin (16%) were reconstructed from three donor sites: forearm (70%), rectus (11%), and fibula (19%).

SNTG1, the gene encoding gamma1-syntrophin: a candidate gene for idiopathic scoliosis.

Idiopathic scoliosis (IS) affects approximately 2%-3% of the population and has a heritable component. The genetics of this disorder are complex. Here, we describe a family in which a pericentric inversion of chromosome 8 co-segregates with IS.