Bardet-Biedl sendromu

Laurence-Moon sendromu

Kalıtsal - AD/AR  

Hipofiz & Hipotalamus sendromlarından PDF

3 fenotip

Brakisefali

Makrosefali

Alın dar

Görme kaybı (rod-cone distrofisi, retinitis pigmentosa, katarakt)

Filtrum uzun-silik

Basık-kısa burun kökü

Gingival hiperplazi

Oligodonti

Hipodonti

Mikrodonti

Taurodontism

Kısa köklü dişler

Çukur damak

Çenelerde osteoskleroz alanları

Koku alma bozuklukları (anosmia)

Büyük kulaklar

Obezite

Diabetes mellitus

Polidaktili

Erkeklerde hipogonadizm

Kızlarda genital malformasyonlar

Her iki cinste progressif böbrek patolojileri (hipoplazi, kistik böbrek, interstisiyel nefrit, böbrek yetmezliği)

Öğrenme güçlükleri ve davranış bozuklukları

 

• Beales PL, Elcioglu N, Woolf AS, et al. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. Journal of Medical Genetics, 36(6):437-446, 1999

• Beales PL. Lifting the lid on Pandora's box: the Bardet-Biedl syndrome. Current Opinion in Genetics & Development, 15(3):315-323, 2005

• Azari AA, Aleman TS, Cideciyan AV, et al. Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. Investigative Ophthalmology & Visual Science, 47:5004–5010, 2006 

• Tobin JL, Beales PL. Bardet-Biedl syndrome: beyond the cilium. Pediatric Nephrology, 22(7):926-936, 2007

• Zaghloul NA, Katsanis N. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. Journal of Clinical Investigation, 119(3):428-437, 2009

• Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011

• Forsythe E, Beales PL. Bardet-Biedl syndrome. European Journal of Human Genetics, 21:8–13, 2013

• Andersson E-M, Axelsson S, Gjolstad L-F, Storhaug K. Taurodontism: A minor diagnostic criterion in Laurence-Moon/Bardet-Biedl syndromes, Acta Odontologica Scandinavica, 71(6):1671-1674, 2013

​