Year 2013,
Issue: 2, 80 - 82, 01.06.2013
Abstract
Beals-Hecht Syndrome is a rare connective tissue disorder associated with arachnodactily, contractures and deformities of the ears. The aim of this study is to discuss the radiologic findings of a five day old male infant with Beals-Hecht syndrome
Keywords
References
- Beals RK, Hecht F: Congenital contractural arachnodactyly: a heritable disorder of connective tissue. J Bone Joint Surg 1971,53A:987-593
- Wang M, Clericuzio CL, Godfrey M. Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2. Am J Hum Genet 1996; 59:1027–34
- Robinson PN, Godfrey M. The molecular genetics of Marfan syndrome and related microfibrillopathies. J Med Genet 2000;37:9-25
- Viljoen D. Congenital contractural arachnodactyly, Beals syndrome. J Med Genetic 1994;31:640-643
- Weinstein SL. Marfan Syndrome. In: Weinstein SL, editor. The Paediatric Spine. Principles and Practice. 2nd ed. New York: Lippincott Williams&Wilkins; 2001. p. 668- 78
- N.Kölble, J.Wisher, D.Babcock, C.Maslen, R.Huch ve B.Steinmann. Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly Ultrasound Obstet Gynecol 2002; 20: 395-9
Year 2013,
Issue: 2, 80 - 82, 01.06.2013
Abstract
Beals-Hecht Sendromu nadir görülen, araknodaktili, kontraktürler ve kulak deformiteleri görülen bir bağ dokusu hastalığıdır. Bu çalışmada 5 günlük erkek bebekte Beals-Hecht Sendromu`nun iskelet sistemi radyolojik bulgularını tartışmak amaçlanmıştır
Keywords
References
- Beals RK, Hecht F: Congenital contractural arachnodactyly: a heritable disorder of connective tissue. J Bone Joint Surg 1971,53A:987-593
- Wang M, Clericuzio CL, Godfrey M. Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2. Am J Hum Genet 1996; 59:1027–34
- Robinson PN, Godfrey M. The molecular genetics of Marfan syndrome and related microfibrillopathies. J Med Genet 2000;37:9-25
- Viljoen D. Congenital contractural arachnodactyly, Beals syndrome. J Med Genetic 1994;31:640-643
- Weinstein SL. Marfan Syndrome. In: Weinstein SL, editor. The Paediatric Spine. Principles and Practice. 2nd ed. New York: Lippincott Williams&Wilkins; 2001. p. 668- 78
- N.Kölble, J.Wisher, D.Babcock, C.Maslen, R.Huch ve B.Steinmann. Prenatal ultrasound findings in a fetus with congenital contractural arachnodactyly Ultrasound Obstet Gynecol 2002; 20: 395-9
There are 6 citations in total.
Details
| Primary Language | Turkish |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | June 1, 2013 |
| Published in Issue | Year 2013Issue: 2 |