Freeman-Sheldon syndrome: a functional and cosmetic correction of microstomia.

Freeman-Sheldon syndrome (FSS) is a rare form of multiple congenital contracture syndrome and is the most severe form of distal arthrogryposis. Described in 1938 by Freeman and Sheldon, it is also referred to as distal arthrogryposis type 2A, craniocarpotarsal dysplasia or whistling faceewindmill vane hand syndrome. Its main form of inheritance is autosomal dominant, but it can also be autosomal recessive or X-linked with neither sex nor ethnic preference. Up until 1990 only 65 patients had been reported in literature. The syndrome is limited to the musculoskeletal systems. The primary deformities are the result of myopathic arthrogryposis. Stevenson et al. published strict diagnostic criteria for FSS, which include: two or more major defects plus the following e microstomia, whistling face, prominent nasolabial creases and ‘H-shaped’ chin dimple (Figure 1a). Major manifestations include: ulnar deviation of wrists and fingers; camptodactyly, hypoplastic and/or absent flexion creases, and/or overriding fingers at birth; talipes equinovarus (therapy