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Scoliosis, blindness and arachnodactyly in a large Turkish family: is it a new syndrome?
Genet Couns. 2008; 19(3):319-30.GC

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+Show Affiliations

Erciyes University, Medical Faculty, Department of Medical Genetics, Kayseri, Turkey. dundar@erciyes.edu.trNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

18990988

Citation

Dundar, M, et al. "Scoliosis, Blindness and Arachnodactyly in a Large Turkish Family: Is It a New Syndrome?" Genetic Counseling (Geneva, Switzerland), vol. 19, no. 3, 2008, pp. 319-30.
Dundar M, Erkilic K, Argun M, et al. Scoliosis, blindness and arachnodactyly in a large Turkish family: is it a new syndrome? Genet Couns. 2008;19(3):319-30.
Dundar, M., Erkilic, K., Argun, M., Caglayan, A. O., Comeglio, P., Koseoglu, E., Matyas, G., & Child, A. H. (2008). Scoliosis, blindness and arachnodactyly in a large Turkish family: is it a new syndrome? Genetic Counseling (Geneva, Switzerland), 19(3), 319-30.
Dundar M, et al. Scoliosis, Blindness and Arachnodactyly in a Large Turkish Family: Is It a New Syndrome. Genet Couns. 2008;19(3):319-30. PubMed PMID: 18990988.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Scoliosis, blindness and arachnodactyly in a large Turkish family: is it a new syndrome? AU - Dundar,M, AU - Erkilic,K, AU - Argun,M, AU - Caglayan,A O, AU - Comeglio,P, AU - Koseoglu,E, AU - Matyas,G, AU - Child,A H, PY - 2008/11/11/pubmed PY - 2009/1/24/medline PY - 2008/11/11/entrez SP - 319 EP - 30 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 19 IS - 3 N2 - 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. SN - 1015-8146 UR - https://wwww.unboundmedicine.com/medline/citation/18990988/Scoliosis_blindness_and_arachnodactyly_in_a_large_Turkish_family:_is_it_a_new_syndrome L2 - http://www.diseaseinfosearch.org/result/6465 DB - PRIME DP - Unbound Medicine ER -