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
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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
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Beales PL. Lifting the lid on Pandora's box: the Bardet-Biedl syndrome. Current Opinion in Genetics & Development, 15(3):315-323, 2005
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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
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Tobin JL, Beales PL. Bardet-Biedl syndrome: beyond the cilium. Pediatric Nephrology, 22(7):926-936, 2007
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Zaghloul NA, Katsanis N. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. Journal of Clinical Investigation, 119(3):428-437, 2009
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Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011
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Forsythe E, Beales PL. Bardet-Biedl syndrome. European Journal of Human Genetics, 21:8–13, 2013
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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