Arthrogryposis Multiplex With Deafness, Inguinal Hernias, And Early Death

Clinical Features

Tiemann et al. (2005) reported 3 male newborns from a consanguineous Lebanese family with a rapidly fatal syndrome consisting of fetal akinesia deformation sequence (FADS; see 208150), inguinal hernias, hearing loss, and myopathic changes biochemically characterized by elevated glycogen content, absent branching enzyme (607839), and decreased activity of phosphorylase-a (see PYGM, 608455) in skeletal muscle. Death occurred at 59 days, 18 days, and 39 days of age in the 3 infants. The 3 males were in 2 sibships, the offspring of 2 brothers married to 2 sisters to whom they were related as first cousins.

Inheritance

Consanguinity and occurrence in sibs suggest autosomal recessive inheritance of this disorder (Tiemann et al., 2005).