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Bardet-Biedl Syndrome and Related Disorders

Bardet-Biedl Syndrome and Related Disorders Abstract • The Bardet-Biedl and Laurence-Moon syndromes are distinct entities. The nosology of five syndromes combining ocular and/or auditory defects, mental retardation, genital hypoplasia, obesity, and digital anomalies is reviewed. A 32-month-old boy had an unusual condition that may represent a sixth entity. References 1. Laurence JZ, Moon RC: Four cases of retinitis pigmentosa occurring in the same family, and accompanied by general imperfections of development . Ophthalmol Rev 1866;2:32-41. 2. Hutchinson J: On retinitis pigmentosa and allied affections, as illustrating the laws of hereditary . Ophthalmol Rev 1882;1:2-7, 26-30. 3. Hutchinson J: Slowly progressive paraplegia and disease of the choroids with defective intellect and arrested sexual development in several brothers and a sister . Arch Surg 1900;11:118-122. 4. Bardet G: Sur un syndrome d'obésité congé nitale avec polydactylie et rétinite pigmentaire (contribution à l'étude des formes cliniques de l'obésité hypophysaire) . Thèse de Paris (Le Grand) 1920;470:107. 5. Biedl A: Ein Geschwisterpaar mit adiposogenitaler Dystrophie . Dtsch Med Wochenschr 1922;48:1630. 6. Cockayne EA, Krestin D, Sorsby A: Obesity, hypogenitalism, mental retardation, polydactyly, and retinal pigmentation: The Laurence-Moon-Biedl syndrome . Q J Med 1935;4:93-120. 7. Sorsby A, Avery H, Cockayne EA: Obesity, hypogenitalism, mental retardation, polydactyly, and retinal pigmentation: Laurence-Biedl syndrome . Q J Med 1939;8:51-68. 8. Bell J: The Laurence-Moon syndrome , in Penrose LS (ed): The Treasury of Human Inheritance . Cambridge, England, Cambridge University Press, 1958, vol 5, pp 51-96. 9. Blumel J, Kniker WT: Laurence-Moon-Bardet-Biedl syndrome: Review of the literature and a report of five cases including a family group with three affected males . Tex Rep Biol Med 1959;17:391-410. 10. Klein D, Ammann F: The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland: Clinical, genetic, and epidemiological studies . J Neurol Sci 1969;9:479-513.Crossref 11. Krill AE, Folk E, Rosenthal JM: Electroretinography in the Laurence-Moon-Biedl syndrome . Am J Dis Child 1961;102:205-209.Crossref 12. Stanescu B, Wawernia E: Electroretinograms and electroencephalograms in Laurence-Moon-Bardet-Biedl syndrome . Confin Neurol 1970;32:423-435.Crossref 13. Ehrenfeld EN, Rowe H, Auerbach E: Laurence-Moon-Bardet-Biedl syndrome in Israel . Am J Ophthalmol 1970;70:524-532. 14. Solis-Cohen S, Weiss E: Dystrophia adiposogenitalis, with atypical retinitis pigmentosa and mental deficiency: The Laurence-Biedl syndrome: A report of four cases in one family . Am J Med Sci 1925;169;489-505.Crossref 15. Franceschetti A, Klein D: Syndrome de Laurence-Moon-Bardet-Biedl . Rev Otoneuroophtalmol 1948;20:109-114. 16. Franceschetti A, Klein D, Forni S, et al: Bardet-Biedl syndrome , in Acta 16th Concil. Ophthalmol. Britan . London, British Medical Association, 1950, pp 190-193. 17. Bamatter F, Megevard A (eds): Rapports II les Abiotrophies Neuro-rétiniennes—les Phacomatoses: Aspects Cliniques, Ophtalmologiques et Génétiques des Abiotrophies Neuro-rétiniennes en Pédiatrie, 18th Congress of the Association of Pediatrists of French Language . Basel, Switzerland, S Karger AG, 1961, pp 1-120. 18. Stiggelbout W: The Bardet-Biedl syndrome, including Hutchinson-Laurence-Moon syndrome , in Vinkin PJ, Bruyn GW (eds): Handbook of Clinical Neurology . New York, Elsevier North Holland Inc, 1972, pp 380-412. 19. Biemond A: Het syndrome van Laurence-Biedl en een niew aanverwant syndroom . Ned Tijdschr Geneeskd 1934;78:1801-1809. 20. Hecker AD, Warren VC: Girdle type adiposity among mentally deficient males . Am J Dis Child 1937;54:1257-1271. 21. Grebe H: Contribution au diagnostic différentiel du syndrome de Bardet-Biedl . J Genet Hum 1953;2:127-144. 22. Prosperi P, Ciuffi G: Limiti nosografici e varianti cliniche della sindrome di Laurence-Moon-Bardet-Biedl . Riv Clin Pediatr 1969;82:5-25. 23. Weiss E: Cerebral adiposity with nerve deafness, mental deficiency and genital dystrophy: Variant of the Laurence-Biedl syndrome . Am J Med Sci 1932;183:268-272.Crossref 24. Lurie LA, Levy S: Laurence-Moon-Biedl syndrome . J Pediatr 1942;21:793-802.Crossref 25. Alstrom CH, Hallgren B, Nilsson LB, et al: Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: A specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: A clinical, endocrinological and genetic examination based on a large pedigree . Acta Psychiatry Neurol Scand , (suppl 129) , 1959, pp 1-35. 26. Carpenter G: Case of acrocephaly with other congenital malformations . Proc R Soc Med 1909;2:45-53. 27. Temtamy SA: Carpenter's syndrome: Acrocephalopolysyndactyly: An autosomal recessive syndrome . J Pediatr 1966;69:111-120.Crossref 28. Goldstein JL, Fialkow PJ: The Alstrom syndrome: Report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder . Medicine 1973;52:53-71.Crossref 29. Anderson NL: The Laurence-Moon-Biedl syndrome . J Clin Endocrinol Metab 1941;1:905-911.Crossref 30. McKinney JM: The Laurence-Biedl syndrome . J Nerv Ment Dis 1931;74:50-51.Crossref 31. Kapuscinski W: Über familiäre Aderhautentartung mit ataktischen Störungen . Ber Zusammenkunft Dtsch Ophthalmol Ges 1934;50:13-19. 32. Ghosh PK: A case of tabes associated with Fröhlich's syndrome . Indian J Pediatr 1937; 4:197-201.Crossref 33. Bhattacharya SP, Banerjea JC: Atypical hereditary ataxia . Indian J Pediatr 1945;12:51-54.Crossref 34. Garcin R, Man HX, Piguet B: Syndrome de Laurence-Moon-Bardet-Biedl . Rev Neurol 1945; 77:269-272. 35. Roth AA: Familial eunuchoidism: The Laurence-Moon-Biedl syndrome . J Urol 1947; 57:427-445. 36. Burn RA: Deafness and the Laurence-Moon-Biedl syndrome . Br J Ophthalmol 1950; 34:65-68.Crossref 37. Boudot JLLG: A Propos d'une Fratrie Associant une Maladie de Friedreich et un Syndrome dit de Laurence-Moon-Bardet-Biedl, thesis. University of Paris, 1952. 38. McCullagh EP, Leiser AE: Turner's syndrome and Laurence-Moon-Biedl syndrome in siblings . J Clin Endocrinol Metab 1957;17:985-988.Crossref 39. Ciccarelli EC, Vesell ES: Laurence-Moon-Biedl syndrome: Report of an unusual family . Am J Dis Child 1961;101:519-524.Crossref 40. Ryan RJ: Male hypogonadism . DM , (March) 1961. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Ophthalmology American Medical Association

Bardet-Biedl Syndrome and Related Disorders

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Publisher
American Medical Association
Copyright
Copyright © 1982 American Medical Association. All Rights Reserved.
ISSN
0003-9950
eISSN
1538-3687
DOI
10.1001/archopht.1982.01030030287011
Publisher site
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Abstract

Abstract • The Bardet-Biedl and Laurence-Moon syndromes are distinct entities. The nosology of five syndromes combining ocular and/or auditory defects, mental retardation, genital hypoplasia, obesity, and digital anomalies is reviewed. A 32-month-old boy had an unusual condition that may represent a sixth entity. References 1. Laurence JZ, Moon RC: Four cases of retinitis pigmentosa occurring in the same family, and accompanied by general imperfections of development . Ophthalmol Rev 1866;2:32-41. 2. Hutchinson J: On retinitis pigmentosa and allied affections, as illustrating the laws of hereditary . Ophthalmol Rev 1882;1:2-7, 26-30. 3. Hutchinson J: Slowly progressive paraplegia and disease of the choroids with defective intellect and arrested sexual development in several brothers and a sister . Arch Surg 1900;11:118-122. 4. Bardet G: Sur un syndrome d'obésité congé nitale avec polydactylie et rétinite pigmentaire (contribution à l'étude des formes cliniques de l'obésité hypophysaire) . Thèse de Paris (Le Grand) 1920;470:107. 5. Biedl A: Ein Geschwisterpaar mit adiposogenitaler Dystrophie . Dtsch Med Wochenschr 1922;48:1630. 6. Cockayne EA, Krestin D, Sorsby A: Obesity, hypogenitalism, mental retardation, polydactyly, and retinal pigmentation: The Laurence-Moon-Biedl syndrome . Q J Med 1935;4:93-120. 7. Sorsby A, Avery H, Cockayne EA: Obesity, hypogenitalism, mental retardation, polydactyly, and retinal pigmentation: Laurence-Biedl syndrome . Q J Med 1939;8:51-68. 8. Bell J: The Laurence-Moon syndrome , in Penrose LS (ed): The Treasury of Human Inheritance . Cambridge, England, Cambridge University Press, 1958, vol 5, pp 51-96. 9. Blumel J, Kniker WT: Laurence-Moon-Bardet-Biedl syndrome: Review of the literature and a report of five cases including a family group with three affected males . Tex Rep Biol Med 1959;17:391-410. 10. Klein D, Ammann F: The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland: Clinical, genetic, and epidemiological studies . J Neurol Sci 1969;9:479-513.Crossref 11. Krill AE, Folk E, Rosenthal JM: Electroretinography in the Laurence-Moon-Biedl syndrome . Am J Dis Child 1961;102:205-209.Crossref 12. Stanescu B, Wawernia E: Electroretinograms and electroencephalograms in Laurence-Moon-Bardet-Biedl syndrome . Confin Neurol 1970;32:423-435.Crossref 13. Ehrenfeld EN, Rowe H, Auerbach E: Laurence-Moon-Bardet-Biedl syndrome in Israel . Am J Ophthalmol 1970;70:524-532. 14. Solis-Cohen S, Weiss E: Dystrophia adiposogenitalis, with atypical retinitis pigmentosa and mental deficiency: The Laurence-Biedl syndrome: A report of four cases in one family . Am J Med Sci 1925;169;489-505.Crossref 15. Franceschetti A, Klein D: Syndrome de Laurence-Moon-Bardet-Biedl . Rev Otoneuroophtalmol 1948;20:109-114. 16. Franceschetti A, Klein D, Forni S, et al: Bardet-Biedl syndrome , in Acta 16th Concil. Ophthalmol. Britan . London, British Medical Association, 1950, pp 190-193. 17. Bamatter F, Megevard A (eds): Rapports II les Abiotrophies Neuro-rétiniennes—les Phacomatoses: Aspects Cliniques, Ophtalmologiques et Génétiques des Abiotrophies Neuro-rétiniennes en Pédiatrie, 18th Congress of the Association of Pediatrists of French Language . Basel, Switzerland, S Karger AG, 1961, pp 1-120. 18. Stiggelbout W: The Bardet-Biedl syndrome, including Hutchinson-Laurence-Moon syndrome , in Vinkin PJ, Bruyn GW (eds): Handbook of Clinical Neurology . New York, Elsevier North Holland Inc, 1972, pp 380-412. 19. Biemond A: Het syndrome van Laurence-Biedl en een niew aanverwant syndroom . Ned Tijdschr Geneeskd 1934;78:1801-1809. 20. Hecker AD, Warren VC: Girdle type adiposity among mentally deficient males . Am J Dis Child 1937;54:1257-1271. 21. Grebe H: Contribution au diagnostic différentiel du syndrome de Bardet-Biedl . J Genet Hum 1953;2:127-144. 22. Prosperi P, Ciuffi G: Limiti nosografici e varianti cliniche della sindrome di Laurence-Moon-Bardet-Biedl . Riv Clin Pediatr 1969;82:5-25. 23. Weiss E: Cerebral adiposity with nerve deafness, mental deficiency and genital dystrophy: Variant of the Laurence-Biedl syndrome . Am J Med Sci 1932;183:268-272.Crossref 24. Lurie LA, Levy S: Laurence-Moon-Biedl syndrome . J Pediatr 1942;21:793-802.Crossref 25. Alstrom CH, Hallgren B, Nilsson LB, et al: Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: A specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: A clinical, endocrinological and genetic examination based on a large pedigree . Acta Psychiatry Neurol Scand , (suppl 129) , 1959, pp 1-35. 26. Carpenter G: Case of acrocephaly with other congenital malformations . Proc R Soc Med 1909;2:45-53. 27. Temtamy SA: Carpenter's syndrome: Acrocephalopolysyndactyly: An autosomal recessive syndrome . J Pediatr 1966;69:111-120.Crossref 28. Goldstein JL, Fialkow PJ: The Alstrom syndrome: Report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder . Medicine 1973;52:53-71.Crossref 29. Anderson NL: The Laurence-Moon-Biedl syndrome . J Clin Endocrinol Metab 1941;1:905-911.Crossref 30. McKinney JM: The Laurence-Biedl syndrome . J Nerv Ment Dis 1931;74:50-51.Crossref 31. Kapuscinski W: Über familiäre Aderhautentartung mit ataktischen Störungen . Ber Zusammenkunft Dtsch Ophthalmol Ges 1934;50:13-19. 32. Ghosh PK: A case of tabes associated with Fröhlich's syndrome . Indian J Pediatr 1937; 4:197-201.Crossref 33. Bhattacharya SP, Banerjea JC: Atypical hereditary ataxia . Indian J Pediatr 1945;12:51-54.Crossref 34. Garcin R, Man HX, Piguet B: Syndrome de Laurence-Moon-Bardet-Biedl . Rev Neurol 1945; 77:269-272. 35. Roth AA: Familial eunuchoidism: The Laurence-Moon-Biedl syndrome . J Urol 1947; 57:427-445. 36. Burn RA: Deafness and the Laurence-Moon-Biedl syndrome . Br J Ophthalmol 1950; 34:65-68.Crossref 37. Boudot JLLG: A Propos d'une Fratrie Associant une Maladie de Friedreich et un Syndrome dit de Laurence-Moon-Bardet-Biedl, thesis. University of Paris, 1952. 38. McCullagh EP, Leiser AE: Turner's syndrome and Laurence-Moon-Biedl syndrome in siblings . J Clin Endocrinol Metab 1957;17:985-988.Crossref 39. Ciccarelli EC, Vesell ES: Laurence-Moon-Biedl syndrome: Report of an unusual family . Am J Dis Child 1961;101:519-524.Crossref 40. Ryan RJ: Male hypogonadism . DM , (March) 1961.

Journal

Archives of OphthalmologyAmerican Medical Association

Published: Feb 1, 1982

References