Ehlers-Danlos Syndrome, Beasley-Cohen Type

Beasley and Cohen (1979) described a family they considered to have a novel form of presumably autosomal recessive EDS. Two of 7 sibs in a consanguineous Chinese family were affected. The proband was a 25-year-old man with hyperextensible joints, bilateral inguinal hernias, hyperelastic skin, chronically dislocated left hip, and 'lop' ears. The sister of the proband had most of the same physical findings as her brother, including narrow face, small eyes, and midface deficiency that differed from unaffected family members. Audiogram revealed moderate hearing reduction at all frequencies. She had apparent cataracts. Both sibs were mentally retarded. Easy bruisability, difficulty with wound healing, prominent veins, pseudotumors, and elastosis perforans were not present; scarring was minimal and sclerae were normal. Dermal collagen studies suggested that levels of procollagen peptidase and lysyl hydroxylase were normal.