title: Scoliosis, blindness and arachnodactyly in a large Turkish family: is it a new syndrome?
abstract: In this report we have described an affected sib in a large Turkish family who appears to have a 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 a 16-year-old boy who was referred to our clinics for scoliosis. He had arachnodactyly of both fingers and toes. He had been suffering from 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 cm 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 defect with variable expression but we can not exclude multigenic inheritance. Further studies are needed to assess the contribution of sex influence to the syndrome because the female relative is less affected.
authors.affiliation: Erciyes University, Medical Faculty, Department of Medical Genetics, Kayseri, Turkey. dundar@erciyes.edu.tr
authors.forename: M
authors.initials: M
authors.lastname: Dundar
authors.forename: K
authors.initials: K
authors.lastname: Erkilic
authors.forename: M
authors.initials: M
authors.lastname: Argun
authors.forename: A O
authors.initials: AO
authors.lastname: Caglayan
authors.forename: P
authors.initials: P
authors.lastname: Comeglio
authors.forename: E
authors.initials: E
authors.lastname: Koseoglu
authors.forename: G
authors.initials: G
authors.lastname: Matyas
authors.forename: A H
authors.initials: AH
authors.lastname: Child
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D054119:Arachnodactyly / Q000235:genetics*; D001766:Blindness / Q000235:genetics*; D002869:Chromosome Aberrations; D003937:Diagnosis, Differential; D004479:Ectopia Lentis / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics; D008875:Middle Aged; D010375:Pedigree; D012600:Scoliosis / Q000235:genetics*; D013577:Syndrome; D055815:Young Adult