Yıl 2013,
Sayı: 2, 80 - 82, 01.06.2013
Öz
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
Anahtar Kelimeler
Kaynakça
- 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
Yıl 2013,
Sayı: 2, 80 - 82, 01.06.2013
Öz
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
Anahtar Kelimeler
Kaynakça
- 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
Toplam 6 adet kaynakça vardır.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Case Report |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Haziran 2013 |
| Yayımlandığı Sayı | Yıl 2013Sayı: 2 |