Severe dwarfism with cataracts. A new osteo-chondrodysplasia

Abstract

We report the findings of a new osteo-chondrodysplasia which does not fulfil the diagnostic criteria of any previously reported dysplasia. Severe short stature, resulting from spine and rhizomelic limb shortening, and cataracts are associated with radiological abnormalities of the spine, epiphyses and metaphyses. M.S. was born in 1973 in a village in Bangladesh. No measurements were made at birth but his mother says he was a little smaller than her three later born children. As a child he was always smaller than the other children but his short staturebecame more obvious with age and by the time he was 10 years old it was clear that he was severely short. When he went to the village school at the age of 5, poor vision was noted and subsequently he went to an ophthalmic service in Sylhet where bilateral cataracts were operated on with some visual improvement. No retinal abnormality was commented upon. He came with his mother and younger brothers to the UK in 1989 to join his father, who had been here intermittently since 1960. M.S. was then referred to R.F.F. because of his short stature. He was a broad, muscular, post-pubertal 16-year-old boy of normal intelligence and hearing but with partial sight. The eyes showed clear ocular cornea, deep anterior chambers, and there were fairly dense posterior capsular remnants on both sides. His fundi showed no abnormality of retinae or optic nerves; an electroretinogram was normal.