Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa

Abstract

We report a case of a male baby who has characteristic signs of Freeman-Sheldon syndrome, a rare but recognizable, severe autosomal dominant form of distal arthrogryposis. Diagnosis was based on the distinctive clinical characteristics of the syndrome and confirmed by genetic analysis that showed a de novo missense mutation c.2015G>A (p.Arg672His) of the MYH3 gene. We highlight the different features present in our patient and describe the etiology of the Freeman-Sheldon phenotype and how its clinical complications can be dealt with. To the best of our knowledge, this is the first molecularly confirmed case of Freeman-Sheldon syndrome in sub-Saharan Africa.

Figure 1

(a) from left to right shows micrognathia and low-set crumpled ears, camptodactyly of the right hand, and camptodactyly and “windmill vane position” of the left hand. (b) from left to right shows congenital vertical talus of the right foot (rocker bottom foot), Talipes equinovarus of the left foot (club foot) and chordee. (c) shows the “mask-like” face with a wide and flat nasal bridge, ocular hypertelorism, microstomia, and puckered lips (“whistling face”).