GENETIC COUNSELING, cilt.19, ss.319-330, 2008 (SCI İndekslerine Giren Dergi)
Scoliosis, blindness and arachnodactyly in a large Turkish family is it a new-syndrome?: In this report we have described in affected sib in a large Turkish family who appears to have it new distinct dominantly-inherited blindness. scoliosis and arachnodactyly syndrome. The combination of clinical abnormalities in these patients did not initially suggest Marfan syndrome or other connective tissue disorders associated with ectopia lentis. The proband was it 16-war-old boy who was referred to our clinics for scoliosis. He had arachnodactyly of both fingers and toes. He had been suffering front progressive visual loss and strabismus Since he was eight years old. His 20-year-old brother had severe kyphoscoliosis, and arachnodactyly of fingers and toes. He was 130 cut tall and was bilaterally blind. His 23 year old sister had only eye findings but no arachnodactyly or scoliosis. His 60-year-old father had mild scoliosis, blindness and arachnodactyly and mother was normal. We performed routine mutation analyses in the genes FBN1. TGFBR1 and TGFBR2, but no mutation has been detected. Our Turkish patients are most likely affected by a hitherto unrecorded condition which is caused by an autosomal dominant gene delect with variable expression but wc can not exclude multigenic inheritance. Further studies are needed to assess the contribution of sex influence to the syndrome because the tcruale relative is less affected.