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BARDET-BIEDL SYNDROME

Yıl 2000, Cilt: 13 Sayı: 3, 156 - 161, 03.12.2016

Nurdan Erol Aysu Türkmen Ahmet Özgüner Serpil Yavrucu Can Erzik Kürşat Özer

Öz

A 3,5-year-old boy was admitted with febrile convulsion and bronchitis. He had polydactyly, obesity, and micropenis on his physical examination which indicated the Bardet Biedl syndrome. Then further investigations were made to make the definitive diagnosis, in the light of literature. We would like to present this case report.
Key Words: Bardet Biedl syndrome, Obesity, Retinitis pigmentosa, Hypogonadism, Mental retardation, Polydactyly.

Kaynakça

  • Warkany, J, Congenital Malformations, Laurence Moon Biedl syndrome. Chicago: Year Book Med Publisher Inc. 1971;1 76-180.
  • Bauman ML, liogan QH. Laurence-Moon-Biedl syndrome. Am J dis Child 1973; 126:119.
  • Beales PL, Elfioglu M, Woolfs AS, Parker D, Flinter FA, Mew criteria for improved diagnosis of Bardet-Biedi syndrome, results of a population survey. J Med Qenet 1999:36:437- 446.
  • Bardet Biedl syndrome
  • Hrynchak Pli. Bardet-Biedl syndrome. Optom Vis Sci 2000; 77:236-243.
  • Beales PL, Warner AM, Hitman GA, Thajjer R,
  • Flinter FA, Bardet Biedl syndrome: A
  • molecular and phenotypic study of 18 families. J Med Genet 1997;34:92-98.
  • Carmi R, Elbedour fi, Stone EM, Sheffield VC, Phenotypic differences among patients with Bardet Biedl syndrome linked to three different chromosome loci. Am J Med Genet 1995;59:199-203.
  • Riise R, Andreasson S, Wright AF, Tornqvist li. Ocular findings in the Laurence Moon Bardet Biedl syndrome. Acta Ophthalmol Scand 1996;74:612-617.
  • Soliman AT, Rajab A, Alsalmi I, Asfour MG, Empty sellae, impaired testosterone secretion, and defective hypothalamic- pituitary growth and gonadal axes in children with Bardet Biedl Syndrome. Metabolism 1996;45:1230-1234.
  • Stoler JM, Herrin JT, Holmes LB, Genital abnormalities in females with Bardet Biedl syndrome. Am J Med Genet 1995:55:276- 278.
  • Rudling O, Riise R, Tornqvist K, Jonsson K. Skeletal abnormalities of hands and feet in
  • Laurence Moon Bardet Biedl (LMBB) syndrome: A radiographic study. Skeletal Radiol 1996;25:655-660.
  • Elbedour K, Zucker IT, Zalzstein E, Barki Y, Carmi R. Cardiac abnormalities in the Bardet Biedl syndrome: Echocardiographie studies of 22 patients .Am J Med Genet 1994;52:164- 169.
  • Uçar B, Yakut A, Rural IT, Büyü kaşık F, Vardareli E. Renal involvement in the Laurence Moon Bardet Biedl syndrome: Report of five casse. Pediatr Hephrol
  • ,1 1:31-35.
  • Dippell J, Varlam DE. early sonographic aspects of kidney morphology in Bardet Biedl syndrome. Pediatr Hephrol 1998; 12:559-563.
  • Baskın E, Balkana F, Çekirge S, Sezer C, Saatçi U: Renal vascular abnormalities in Bardet-Biedl syndrome. Pediatr Hephrol 1999;13:787-789.
  • Özer G, Yüksel B, Süleymanova D, Alhan E, demircan H, Önenli H, Clinical features of Bardet Biedl syndrome. Acta Paediatr Jpn 1995;37:233-236.
  • Chalvon D A, Tardieu M, et al. Laurence Moon Bardet Biedl syndrome with growth hormone deficiency. Arch Fr Pedatr 1993;50:859-862.

Yıl 2000, Cilt: 13 Sayı: 3, 156 - 161, 03.12.2016

Nurdan Erol Aysu Türkmen Ahmet Özgüner Serpil Yavrucu Can Erzik Kürşat Özer

Öz

Kaynakça

  • Warkany, J, Congenital Malformations, Laurence Moon Biedl syndrome. Chicago: Year Book Med Publisher Inc. 1971;1 76-180.
  • Bauman ML, liogan QH. Laurence-Moon-Biedl syndrome. Am J dis Child 1973; 126:119.
  • Beales PL, Elfioglu M, Woolfs AS, Parker D, Flinter FA, Mew criteria for improved diagnosis of Bardet-Biedi syndrome, results of a population survey. J Med Qenet 1999:36:437- 446.
  • Bardet Biedl syndrome
  • Hrynchak Pli. Bardet-Biedl syndrome. Optom Vis Sci 2000; 77:236-243.
  • Beales PL, Warner AM, Hitman GA, Thajjer R,
  • Flinter FA, Bardet Biedl syndrome: A
  • molecular and phenotypic study of 18 families. J Med Genet 1997;34:92-98.
  • Carmi R, Elbedour fi, Stone EM, Sheffield VC, Phenotypic differences among patients with Bardet Biedl syndrome linked to three different chromosome loci. Am J Med Genet 1995;59:199-203.
  • Riise R, Andreasson S, Wright AF, Tornqvist li. Ocular findings in the Laurence Moon Bardet Biedl syndrome. Acta Ophthalmol Scand 1996;74:612-617.
  • Soliman AT, Rajab A, Alsalmi I, Asfour MG, Empty sellae, impaired testosterone secretion, and defective hypothalamic- pituitary growth and gonadal axes in children with Bardet Biedl Syndrome. Metabolism 1996;45:1230-1234.
  • Stoler JM, Herrin JT, Holmes LB, Genital abnormalities in females with Bardet Biedl syndrome. Am J Med Genet 1995:55:276- 278.
  • Rudling O, Riise R, Tornqvist K, Jonsson K. Skeletal abnormalities of hands and feet in
  • Laurence Moon Bardet Biedl (LMBB) syndrome: A radiographic study. Skeletal Radiol 1996;25:655-660.
  • Elbedour K, Zucker IT, Zalzstein E, Barki Y, Carmi R. Cardiac abnormalities in the Bardet Biedl syndrome: Echocardiographie studies of 22 patients .Am J Med Genet 1994;52:164- 169.
  • Uçar B, Yakut A, Rural IT, Büyü kaşık F, Vardareli E. Renal involvement in the Laurence Moon Bardet Biedl syndrome: Report of five casse. Pediatr Hephrol
  • ,1 1:31-35.
  • Dippell J, Varlam DE. early sonographic aspects of kidney morphology in Bardet Biedl syndrome. Pediatr Hephrol 1998; 12:559-563.
  • Baskın E, Balkana F, Çekirge S, Sezer C, Saatçi U: Renal vascular abnormalities in Bardet-Biedl syndrome. Pediatr Hephrol 1999;13:787-789.
  • Özer G, Yüksel B, Süleymanova D, Alhan E, demircan H, Önenli H, Clinical features of Bardet Biedl syndrome. Acta Paediatr Jpn 1995;37:233-236.
  • Chalvon D A, Tardieu M, et al. Laurence Moon Bardet Biedl syndrome with growth hormone deficiency. Arch Fr Pedatr 1993;50:859-862.
Toplam 21 adet kaynakça vardır.

Ayrıntılar

Bölüm Case Reports
Yazarlar

Nurdan Erol Bu kişi benim

Aysu Türkmen Bu kişi benim

Ahmet Özgüner Bu kişi benim

Serpil Yavrucu Bu kişi benim

Can Erzik Bu kişi benim

Kürşat Özer Bu kişi benim

Yayımlanma Tarihi 3 Aralık 2016
Yayımlandığı Sayı Yıl 2000 Cilt: 13 Sayı: 3

Kaynak Göster

APA Erol, N., Türkmen, A., Özgüner, A., Yavrucu, S., vd. (2016). BARDET-BIEDL SYNDROME. Marmara Medical Journal, 13(3), 156-161.
AMA Erol N, Türkmen A, Özgüner A, Yavrucu S, Erzik C, Özer K. BARDET-BIEDL SYNDROME. Marmara Med J. Haziran 2016;13(3):156-161.
Chicago Erol, Nurdan, Aysu Türkmen, Ahmet Özgüner, Serpil Yavrucu, Can Erzik, ve Kürşat Özer. “BARDET-BIEDL SYNDROME”. Marmara Medical Journal 13, sy. 3 (Haziran 2016): 156-61.
EndNote Erol N, Türkmen A, Özgüner A, Yavrucu S, Erzik C, Özer K (01 Haziran 2016) BARDET-BIEDL SYNDROME. Marmara Medical Journal 13 3 156–161.
IEEE N. Erol, A. Türkmen, A. Özgüner, S. Yavrucu, C. Erzik, ve K. Özer, “BARDET-BIEDL SYNDROME”, Marmara Med J, c. 13, sy. 3, ss. 156–161, 2016.
ISNAD Erol, Nurdan vd. “BARDET-BIEDL SYNDROME”. Marmara Medical Journal 13/3 (Haziran 2016), 156-161.
JAMA Erol N, Türkmen A, Özgüner A, Yavrucu S, Erzik C, Özer K. BARDET-BIEDL SYNDROME. Marmara Med J. 2016;13:156–161.
MLA Erol, Nurdan vd. “BARDET-BIEDL SYNDROME”. Marmara Medical Journal, c. 13, sy. 3, 2016, ss. 156-61.
Vancouver Erol N, Türkmen A, Özgüner A, Yavrucu S, Erzik C, Özer K. BARDET-BIEDL SYNDROME. Marmara Med J. 2016;13(3):156-61.