Laurence-moon-bardet-biedl syndrome: Clinical, electrophysiological and genetic aspects

Acta Ophthalmologica Scandinavica, Supplement

Volumn 76, Issue 226, 1998, Pages 1-28

  Ruse, Ruth ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; BODY CONSTITUTION; CAUSE OF DEATH; CHILD; COMPARATIVE STUDY; DARK ADAPTATION; ELECTRORETINOGRAPHY; FEMALE; GENETIC LINKAGE; GENETICS; GENOTYPE; HAND MALFORMATION; HUMAN; LAURENCE MOON SYNDROME; LIFE EXPECTANCY; MALE; MIDDLE AGED; MORTALITY; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; RADIOGRAPHY; REPRODUCIBILITY; RETINA; SCANDINAVIA; SURVIVAL RATE; TOOTH MALFORMATION; AUTOSOMAL RECESSIVE DISORDER; BARDET BIEDL SYNDROME; CREATININE BLOOD LEVEL; DIABETES MELLITUS; DIGESTIVE SYSTEM DISEASE; FAMILIAL DISEASE; HEARING IMPAIRMENT; HYPOGONADISM; KIDNEY DISEASE; LIMB MALFORMATION; MAJOR CLINICAL STUDY; MENTAL DEFICIENCY; NEUROLOGIC DISEASE; OBESITY; POLYDACTYLY; PRIORITY JOURNAL; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; SIBLING; SYMPTOMATOLOGY;

ADOLESCENT; ADULT; AGED; BODY CONSTITUTION; CAUSE OF DEATH; CHILD; CHILD, PRESCHOOL; DARK ADAPTATION; ELECTRORETINOGRAPHY; FEMALE; GENOTYPE; HAND DEFORMITIES, CONGENITAL; HUMANS; LAURENCE-MOON SYNDROME; LIFE EXPECTANCY; LINKAGE (GENETICS); MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; REPRODUCIBILITY OF RESULTS; RETINA; SCANDINAVIA; SURVIVAL RATE; TOOTH ABNORMALITIES;

TESTOSTERONE;

EID: 0031595509     PISSN: 13953931     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (129)

1. Alström CH, Hallgren BH, Nilsson LB & Asander H (1959): Retinal degeneration combined with obesity, diabetes mellitus and neurogenous determined deafness. A specific syndrome (not hitherto described) distinct from the LaurenceMoon-Bardet-Biedl syndrome. A clinical, endocrinological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand 34 (Suppl 129): 1-35.
2. Alton DJ & McDonald PM (1973): Urographie findings in the Bardet-Biedl syndrome. Radiology 109: 659-663.
3. Ammann F (1968): Investigations cliniques et génétiques sur le syndrome de BardetBiedl en Suisse. Thèse de Genève 3045: 1287.
4. Anadolinska A & Roussinov D (1993): Clinical aspects of renal involvement in Bardet-Biedl syndrome. Int Urol Nephrol 25: 509-519.
5. Andréasson S, Ponjavic V & Ehinger B (1993): Full-field electro-retinogram in a patient with cutaneous melanoma- associated retinopathy. Acta Ophthalmol (Copenh) 71: 487-490.
6. Babel J (1963): Constatations histologiques dans 1'amaurose infantile de Leber et dans diverses formes d'héméralopie. Ophthalmologica 145: 399-402.
7. Bardet G (1920): Sur un syndrome d'obésité congénitale avec polydactylie et rétinite pigmentaire (Contribution a l'étude des formes cliniques de l'obésité hypophysaire). Thèse de Paris 470: 9-107.
8. Bauman ML & Hogan GR (1973): Laurence-Moon-Biedl syndrome. Am J Dis Child 126: 119-126.
9. Bek T & Rosenberg T (1995): Clinical pathology and retinal vascular structure in the Bardet-Biedl syndrome. Br J Ophthalmol 79: 76-80.
10. Bell J (1958): The Laurence-Moon syndrome. In: Penrose LS (ed): The Treasury of Human Inheritance. Cambridge: Cambridge University Press 5: 51-96.
11. Bennett AG & Rabbetts RB (1984): Clinical visual optics. Butterworths p 33.
12. Bergsma RB & Brown KS (1975): Assessment of ophthalmologic, endocrinologie and genetic findings in the Bardet-Biedl syndrome. Birth Defect 2: 132-136.
13. Berson EL, Sandberg MA, Rosner B, Birch DG & Hanson AH (1985): Natural course of retinitis pigmentosa over a three-year interval. Am J Ophthalmol 99:240-251.
14. Biedl A (1922): Ein Geschwisterpaar mit adiposo-genitaler Dystrofie. Dtsch Med Wochenschr 4: 1630.
15. Bisland T (1951): The Laurence-Moon-Bardet-Biedl syndrome. Report of a typical case with complete necropsy. Am J Ophthalmol 34: 874-884.
16. Blohmé J & Tornqvist K (1997): Visual impairment in Swedish children. Ill Diagnoses. Acta Ophthalmol Scand 75: 681687.
17. Bowen P, Ferguson-Smith MA, Mosier D, Lee CSN & Butler HG (1965): The Laurence-Moon syndrome. Association with hypogonadotropic hypogonadism and sex chromosome aneuploidy. Arch Intern Med 116:598-604.
18. Brattgärd S-E (1949): The pathology of Laurence-Moon-Biedl syndrome. Acta Path Microbiol Scand 26: 525-537.
19. Burn RA (1949): Deafness and the Laurence-Moon-Biedl syndrome. Br J Ophthalmol 34: 65-88.
20. Campo RV & Aaberg TM (1982): Ocular and systemic manifestations of the Bardet-Biedl syndrome. Am J Ophthalmol 94: 750-756.
21. Cantani A, Bellioni P, Barmonte G, Salvinelli F & Barmonte MT (1985): Seven hereditary syndromes with pigmentary retinopathy. A review and differential diagnosis. Clin Pediatr 24: 578-583.
22. Carmi R, Roklina T, Kwitek-BIack AE, Elbedour K, Nishimura D, Stone EM & Sheffield VC (1995): Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum Mol Genet 4: 9-13.
23. Carmi R, Elbedour K, Stone EM & Sheffield VC (1995): Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci. Am J Med Genet 59: 199-203.
24. Chalvon-Demersay A, Tardieu M, Crosnier H, Benichou JJ, Pienkowski C, Rochiccioli P & Labrune B (1993): Syndrome de Laurence-Moon (Bardet-Biedl) avec deficit en hormone de croissance. Arch Fr Pediatr 50: 859-862.
25. Charles SJ, Moore AT, Yates JRW, Green T & Clark P (1990): Alström's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction. J Med Genet 27: 590-592.
26. Cheng IK, Chan MK., Kung A & Wang C (1988): Glomerulonephropathy of Laurence-Moon-Biedl syndrome. Postgrad Med J 64: 621-625.
27. Churchill DN, McManamon P & Hurley RM (1981): Renal disease - a sixth cardinal feature of the Laurence-Moon-Biedl syndrome. Clin Nephrol 16: 151-154.
28. Collin GB, Marshall JD, Cardon LR & Nishina P M (1997): Homozygosity mapping of Alstrom syndrome to chromosome 2p. Hum Mol Genet 6: 213-219.
29. Collins CM, Mendoza SA, Griswold WR, Tanney D, Lieberman E & Reznik VM (1994): Pédiatrie renal transplantation in Laurence-Moon-Biedl syndrome. Pediatr Nephrol 8: 221-222.
30. Cornier AS, Fulton AB, Roklina T, Nishimura D, Stone EM, Sheffield VC, Whiteman DAH & Cox GF (1995): Homozygosity mapping of a Bardet-Biedl syndrome gene in inbred families of Puerto Rican ancestry confirms the existence of a chromosome 11 locus. Am J Hum Genet 57: A189.
31. Croft JB & Swift M (1990): Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs. Am J Med Genet 36: 37-12.
32. Dallapiccola (1971): Familial translocation t(2p-;17p+). Ann Genet 14: 153-155.
33. Dib C, Faure S, Fizames C, Samson D, Drouot D, Vignal A, Millaseau P, Marc S, Kazan J, Seboun E, Lathrop M, Gyapay G, Morisette J & Weissenbach J (1996): A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380: Al-138.
34. Dünn TL & Coorey PR (1982): Anorexia nervosa, visual disturbance and Laurence-Moon-Biedl syndrome. Lancet 1184.
35. Edwards JA, Sethi PK, Bannerman RM & Frohman LA (1976): A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance. Am J Med 60: 23-32.
36. Elbedour K, Zucker N, Zalzstein E, Barki Y & Carmi R (1994): Cardiac abnormalities in the Bardet-Biedl syndrome. Am J Med Genet 52: 164-169.
37. Ehrenfeld E N, Rowe H & Auerbach E (1970): Laurence-Moon-Bardet-Biedl syndrome in Israel. Am J Ophthalmol 70: 524-532.
38. Escallon F, Traboulsi EI & Infante R (1989): A family with the Bardet-Biedl syndrome and diabetes mellitus. Arch Ophthalmol 107: 855-857.
39. Falkner B, Langman C & Katz S (1977): Renal histopathological changes in a child with Laurence-Moon-Biedl syndrome. J Clin Pathol 30: 1077-1081.
40. Fannemel M, Ruse R, Lofterod B & Tommerup N (1993): High-resolution chromosome analysis in autosomal recessive disorders: Laurence-Moon-Bardet-Biedl syndrome (Letter). Clin Genet 43: 111.
41. Farag TI & Teebi AS (1988): Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population. Clin Genet 33: 78-82.
42. Farag TI, Teebi AS, Al-Awadi SA & ElRamly MA (1989): Monozygotic twins concordant for Bardet-Biedl syndrome and benign acanthosis nigricans. Med PrincPract 1: 60-62.
43. Ferris FL, KassofT Aa, Bresnick GH & Bailey I (1982): New visual acuity charts for clinical research. Am J Ophthalmol 94: 91-96.
44. Fledelius H (1983): Is myopia getting more frequent? A cross-sectional study of 1416 Danes aged 16 years+. Acta Ophthalmol (Copenh) 61: 545-559.
45. Francois J (1953): A propos d'une famille présantant des anomalies oculaires du type colobomateux depuis le colobome unilatéral de l'iris jusqu'à l'ànophthalmie bilatérale associée au syndrome de Bardet-Biedl. Bull Soc Belge Ophthalmol 104: 342-355.
46. Fulton AB, Hansen RM & Glynn RJ (1993): Natural course of visual functions in the Bardet-Biedl Syndrome. Arch Ophthalmol 111: 1500-1506.
47. Garcin R, Man HX & Piguet B (1945): Syndrome de Laurence-Moon-Bardet-Biedl. Revue Neurologique 47: 269-272.
48. Goldstein JL & Fialkow PJ (1973): The Alström syndrome. Report of three cases with further delineation of the clinical, pathophysical and genetic aspects of the disorder. Medicine 52: 53-71.
49. Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, Heath O, McManamon PJ, O'Leary E & PrysePhillips W (1989): The cardinal manifestations of Bardet- Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N EnglJMed321: 1002-1009.
50. Grossniklaus HE, Muir A, Bruner WE, Annable W, Dickerman LL & Johnson WE (1988): Sex chromosome aneuploidy and Bardet-Biedl syndrome. Ophthalmic Paediatr Genet 9: 37-42.
51. Haim M (1992): Prevalence of retinitis pigmentosa and allied disorders in Denmark. II Systemic involvement and age at onset. Acta Ophthalmol (Copenh) 70: 417-26.
52. Haim M & Rosenberg T (1993): Retinitis pigmentosa and allied disorders in Denmark. IV Ophthalmic features in systemic and non-systemic cases. Acta Ophthalmol (Copenh) 70: 597-605.
53. Haning RV, Carlson IH, Gilbert EF, Shapio SS & Opitz JM (1980): Virilism as a late manifestation in the Bardet-Biedl Syndrome. Am J Med Genet 7: 279-292.
54. Hansen E, Plage T, Rosenberg T, Rudanko S-L, Viggosson G & Riise R (1992): Visual impairment in Nordic children. Ill Diagnoses. Acta Ophthalmol (Copenh) 70: 597-604.
55. Harrison JM & v Heuven WAJ (1985): Rodcone interactions in the ERG of a patient with Bardet-Biedl syndrome. Doc Ophthalmol 60: 203-209.
56. Harnett JD, Green JS, Cramer BC, Johnson G, Chafe L, McManamon P, Farid NR, Pryse-Phillips W & Parfrey PS (1988): The spectrum of renal disease in Laurence-Moon-Biedl syndrome. N Engl J Med 319: 615-618.
57. Hauser C, Rojas C, Roth A, Schmied E & Saurat J-H (1990): A patient with features of both Bardet-Biedl and Alström syndromes. Eur J Pediatr 149: 783-785.
58. Heintze U, Birkhed D & Bjön H (1983): Secretion rate and buffer effect of resting and stimulated whole saliva as function of age and sex. Swed Dent J 7: 227-238.
59. Hutchinson J (1900): Slowly progressive paraplegia and disease of the choroids with defective intellect and arrested sexual development in several brothers and a sister. Arch Surg 11: 118-122.
60. lannaccone A, Vingolo EM, Rispoli E, De Propris GD, Tanzilli P & Pannarale MR (1996): Electroretinographic alterations in the Laurence-Moon-Bardet-Biedl phenotype. Acta Ophthalmol Scand 74: 8-13.
61. Jacobson SG, Burruat FX & Apathy MS (1990): Patterns of rod and cone dysfunction in Bardet-Biedl syndrome. Am J Ophthalmol 109: 676-688.
62. Kalangu KK & Wolf B (1994): Ano-cutaneous fistula associated with Bardet-Biedl syndrome in an African child. East Afr Med J 71: 330-331.
63. Kalangu KK (1995): A further case of Bardet-Biedl syndrome. Cent Afr J Med 41: 167-169.
64. Kapuscinski W (1934): Über familiäre Aderhautentartung mit ataktischen Störungen. Dtsch Ophthalmol Ges 50: 13-19.
65. Katsumi O, Tanino T, Hirose T, Larson EW & Skladzien CJ (1985): LaurenceMoon-Bardet-Biedl syndrome: Electrophysiological and psychophysical findings. Jpn J Ophthalmol 29: 282-289.
66. Keith CG (1984): Bardet-Biedl syndrome. Aust J Ophthalmol 12: 143-148.
67. Klein D & Ammann F (1969): The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. J Neurol Sei 9: 479-513.
68. Knudtzon J, Waaler PE, Solberg K, Grieg E, Skjrven R, Steen J & Irgens LM (1988a): Hoyde, vekt og hodeomkrets hos 0-4 âr garnie barn. Data basert pâ SYSBARN-registreringen og Medisinsk Fodselsregister. Tidsskr Nor Liegeforen 108: 2136-2142.
69. Knudtzon J, Waaler PE, Skja-rven R, Solberg LK & Steen J (1988b): Nye norske percentilkurver for hoyde, vekt og hodeomkrets for alderen 0-17 ar. Tidsskr Nor Lxgeforen 108: 2125-2135.
70. Kobrin JL, Ternand CL, Knobloch WH & Johnson DD (1990): Dental abnormalities as a component of the LaurenceMoon-Bardet- Biedl syndrome. Ophthalm Paediatr Genet 11: 299-303.
71. Krill AE, Folk E & Rosenthal IM (1961): Electroretinography in the LaurenceMoon-Bardet-Biedl syndrome. Am J Dis Child 102: 205-209.
72. Kwitek-Black AE, Carmi R, Duyk GM, Buetow KH, Elbedour K, Parvari R, Yandava CN, Stone EM & Sheffield VC (1993): Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity. Nature Genet 5: 392-396.
73. Laurence JC & Moon RC (1866): Four cases of "Retinitis Pigmentosa" occurring in the same family, and accompanied by general imperfections of development. Ophthalm Rev 2: 32-41.
74. Lavy T, Harris CM, Shawkat F, Thompson D & Taylor D (1995): Electrophysiological and eye-movement abnormalities in children with the Bardet-Biedl syndrome. J Pediatr Ophthalmol Strabismus 32: 364-367.
75. Lee PA, Mazur T, Danish R, Amrheim J, Blizzard RM, Money J & Migeon CJ (1980): Micropenis. I Criteria, Etiologies and Classification. Johns Hopkins Med J 146: 156-163.
76. Leigh RJ & Zee DS (1980): Eye movements of the blind. Invest Ophthalmol Vis Sei 19: 328.
77. Leppert M, Baird L, Anderson KL, Otterud B, Lupski JR & Lewis AL (1994): BardetBiedl syndrome is linked to DNA markers on chromosome llq and is genetically heterogeneous. Nature Genet 7: 108-112.
78. Leroit D, Farkash Y, Bar-Ziev J & Spitz IM (1980): Hypothalamic-pituitary function in the Bardet-Biedl syndrome. Isr J Med Sei 16: 514-518.
79. Leys MJ, Schreiner LA, Hansen RM, Mayer DL & Fulton AB (1988): Visual acuities and dark-adapted thresholds of children with Bardet-Biedl syndrome. Am J Ophthalmol 106: 561-569.
80. Lin HS & Lin TY (1993): Laurence-MoonBiedl syndrome: report of two cases. J Formos Med Assoc 92: 904-906:
81. Linné T, Wikstad I & Zetterström R (1986): Renal involvement in the LaurenceMoon-Biedl syndrome. Functional and radiological studies. Acta Paediatr Scand 75: 240-244.
82. Lofterod B, Ruse R, Skuseth T & Storhaug K (1990): Laurence-Moon-Bardet-Biedl syndrom. Nord Med 105: 146-148.
83. Luz MF, Marques MNT, Jörge E, Jacomini CZ, Ribero Z & Marques J (1985): The Laurence-Moon-Bardet-Biedl syndrome. Metab Pediatr Syst Ophthalmol 4: 15-20.
84. Lyle DJ (1946): Early ocular manifestations in the Laurence-Moon-Biedl syndrome. Am J Ophthalmol 29: 939-946.
85. Magnusson B (1960): Polysyndactylia and dental malformation. Report of a case. Odont Tidskr 68 (Suppl 4): 386-393.
86. Mamor J & Lambert RK (1938): LaurenceMoon-Biedl syndrome. Its relation to the general problem of retinitis pigmentosa. Arch IntMed 61: 523-536.
87. McKusick VA, Francomano CA & Antonarakis SE (1992): Mendelian inheritance in man. Catalogs of autosomal dominant, autosomal recessive and X-Iinked phenotypes. Tenth edition. The Johns Hopkins University Press, Baltimore and London.
88. Millay H, Weleber RG & Heckenlively JR (1986): Ophthalmologic and systemic manifestations of Alström's disease. Am J Ophthalmol 102: 482-90.
89. Nadjmi B, Flanagan MJ & Christian JR (1969): Laurence-Moon- Biedl syndrome. Associated with multiple genitourinary tract anomalies. Am J Dis Child 117: 352-356.
90. Nakamura F, Sasaki H, Kajihara H & Yamanoue M (1990): Laurence-Moon-Biedl syndrome accompanied by congenital hepatic fibrosis. J Gastroent Hepatol 5: 206-210.
91. Newsome DA (1988): Retinitis pigmentosa, Usher's syndrome and other pigmentary retinopathies. In: Newsome (ed): Retinal dystrophies and degenerations. 10: 178. Raven Press. New York.
92. Norden G, Friman S, Frisenette-Fich C, Persson H & Karlberg I (1991): Renal transplantation in the Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. Nephrol Dial Transplant 6: 982-983.
93. Norén J, Koch G & Rasmussen P (1991): Disturbances in tooth development and eruption. In: Koch G, Modeer T, Poulsen S & Rasmussen P (eds.) Pedodontics - a clinical approach. Copenhagen. Munksgaard 250-274.
94. Norio R, Raitta C & Lindahl E (1984): Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leucopenia and consanguinity. Clin Genet 25: 1-14.
95. Nyska M, Mozes G, Howard C, Bar-Ziv J & Dekel S (1991): Quadriparesis in the Laurence-Moon-Bardet-Biedl Syndrome: Case report. Paraplegia 29: 350-354.
96. Osusky R, Alsaadi AH & Farpour H (1991): Falldemonstration vom LaurenceMoon-Bardet-Biedl Syndrom. Klin Monatsbl Augenheilkd 198: 445-446.
97. Ott J & Terwillinger JD (1994): Handbook of Human Genetic Linkage. The Johns Hopkins University Press, Baltimore and London.
98. Pagon RA, Haas JE, Bunt AH & Rodaway KA (1982): Hepatic involvement in the Bardet-Biedl syndrome. Am J Med Genet 13: 373-381.
99. Pearce WG, Gillan JG & Brosseau L (1984): Bardet-Biedl syndrome and retinitis punctata albescens in an isolated northern Canadian community. Can J Ophthalmol 19: 115-118.
100. Price D, Gärtner JG & Kaplan BS (1981): Ultrastructural changes in the glomerular basement membrane of patients with Laurence-Moon-Biedl-Bardet syndrome. Clin Nephrol 16: 283-288.
101. Prosper! L, Cordelia M & Bernasconi S (1977): Electroretinography and the diagnosis of the Laurence-Moon-Bardet-Biedl syndrome in childhood. J Pediatr Ophthalmol Strabismus 14: 305-308.
102. Radetti G, Frick R, Pasquino B, Mengarda G & Savage MO (1988): Hypothalamicpituitary dysfunction and Hirschsprung's disease in the Bardet-Biedl syndrome. Helv Paediatr Acta 43: 249-252.
103. Reed DR, Ding Y, Xu W, Gather C & Price RA (1995): Human obesity does not segregate with the chromosomal regions of Prader-Willi, Bardet-Biedl, Cohen, Borjeson or Wilson-Turner syndromes. Int J Obes Relat Metab Disord 19: 599-603.
104. Ruse R (1987): Visual function in LaurenceMoon-Bardet-Biedl syndrome. A survey of 26 cases. Acta Ophthalmol (Copenh) 65 (Suppl 182): 128-131.
105. Ruse R, Plage T, Rosenberg T, Rudanko SL, Viggosson G & Warburg M (1992): Visual impairment in Nordic children. I Nordic registers and prevalence data. Acta Ophthalmol (Copenh) 70: 145-154.
106. Rizzo J F, Berson EL & Lessell S (1986): Retinal and neurologic findings in the Laurence-Moon-Bardet-Biedl phenotype. Ophthalmology 93: 1452-1456.
107. Runge P, Calver D, Marshall J & Taylor D (1986): Histopathology of mitochondrial cytopathy and the Laurence-Moon-Bardet-Biedl syndrome. Br J Ophthalmol 70: 782-796.
108. Sandberg MA, Weigèl-DiFranco C, Rosner B &'Berson E L (1996): The relationship between visual field size and electroretinogram amplitude in retinitis pigmentosa. Invest Ophthalmol Vis Sei 37: 1693-1698.
109. Schachat AP & Maumenee IH (1982): Bardet-Biedl syndrome and related disorders. Arch Ophthalmol 100: 285-288.
110. Schwab G & Kriz K (1980): Zwei Schwestern mit Laurence-Bardet-Biedl-Moon Syndrom und gleichzeitig bestehendem Korpuskarzinom. Geburtsh u Frauenheilk 40: 279-281.
111. Sheffield V C, Carmi R, Kwitek-Black, Rokhlina T, Nishimura D, Duyk GM, Elbedour K, Sunden SL & Stone EM (1994): Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an approach to homozygosity mapping. Hum Mol Genet 3: 13311335.
112. Sieving PA & Fishman GA (1978): Refractive errors of retinitis pigmentosa patients. Br J Ophthalmol 62: 163-167.
113. Skuseth T (1985): Laurence-Moon-BardetBiedl's syndrom. Utbredelse i Norge. Kartlegging av gruppens medisinske, sosialmedisinske og pedagogiske situasjon. Statens Spesiallrerhogskole, Oslo 124125.
114. Snell AC (1942): Laurence-Moon-Biedl syndrome. Report of a case in a negro family. Arch Ophthalmol 28: 12-16.
115. Solis-Cohen S & Weiss E (1925): Dystrophia adiposogenitalis with atypical retinitis pigmentosa and mental deficiency - the Laurence-Biedl syndrome. A report of four cases in one family. Am J Med Sei 169: 489-505.
116. Sorsby A, Avery H & Cockayne EA (1939): Obesity, hypogenitalism, mental retardation, polydactyly and retinal pigmentation. The Laurence-Moon-Biedl syndrome. Quart J Med 32: 51-68.
117. Srinivas V, Winsor GM & Dow D (1983): Urologie manifestations of LaurenceMoon-Biedl syndrome. Urology 21: 581-583.
118. Stanescu B & Wawernia E (1970): Electroretinograms and electroencephalograms in Laurence-Moon-Bardet-Biedl syndrome. Confin Neurol 32: 423-35.
119. Taylor C (1947): A case of the LaurenceMoon-Biedl syndrome, showing atypical retinitis pigmentosa associated with macular dystrophy. Br J Ophthalmol 31: 211-215.
120. Tahvanainen E, Norio R, Karila E, Ranta S, Weissenbach J, Sistonen P & de-laChapelle A (1994): Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. Nat Genet 7: 201204.
121. Tanner JM, Whitehouse RH & Takaishi M (1965): Standards from birth to maturity for height, weight, height velocity and weight velocity: British children. Arch Dis Child 41: 613-635.
122. Traboulsi El (1993): To lump or to split? Ophthalm Paediatr Genet 14: 141-142.
123. Tremblay F, LaRoche RG, Shea SE & Ludman MD (1993): Longitudinal study of the early electroretinographic changes in Alström's syndrome. Am J Ophthalmol 115:657-665.
124. Tverdal AA (1996): Hoyde, vekt og kroppsmasseindex for menn og kvinner i alderen 40-42 år. Tidsskr Nor Lsegeforen 116:2152-2156.
125. van Bogart L & Hariga J (1961): La maladie de Bardet-Biedl accompagné de troubles neurologiques (Etude de deux familles et d'une nouvelle observation anatomique). J Genêt Hum 10: 347-369.
126. Vraa-Jensen G (1945): Laurence-Moon-Biedl syndrom. Nord Med 27: 1-6.
127. Warburg M, Pedersen SA & Horlyk H (1990): The Cohen syndrome. Retinal lesions and granulocytopenia. Ophthalm Paediatr Genêt 2: 7-13.
128. Weleber RG & Eisner A (1988): Retinal . function and physiological studies. In: Newsome DA (ed.) Retinal dystrophies and degenerations 3: 22-24.
129. Wright AF, Bruford EA, Thomson K.L, Riise R, Jay M, Patton MA, Jeffery MA, Schinzel A.Tommerup N, Teague PW & Mansfield DC (1995): Genetic linkage analysis in 26 families with Bardet-Biedl syndrome. Invest Ophthalmol Vis Sei 36/ 4: 774.