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Marfan's Syndrome: A Report of Its Inheritance in Four Generations

Marfan's Syndrome: A Report of Its Inheritance in Four Generations Abstract Voluminous literature has accumulated on Marfan's syndrome since Marfan's original description in 1896 of a child with symmetrical elongation of the extremities, muscular deficiency, and loss of subcutaneous fat. Numerous clinical reports have delineated a syndrome of widespread skeletal, ocular, and cardiovascular defects, with the emphasis of such investigations shifting in recent years to reports of alterations in the great vessels and their late effects. Recent reviews of the subject, namely, those of Ross in 19491 and of McKusick in 1955,2 have summarized these clinical observations since Rados' article in 1942,3 and further survey at this time is probably unnecessary. There have been, however, comparatively few reports of the inheritance of these defects in a familial pattern.4-9 Recently I have had an opportunity to observe various manifestations of Marfan's syndrome in a four-generation kinship. Believing that such documentation will be useful in studying the genetics of References 1. Ross, L. J.: Arachnodactyly: Review of Recent Literature and Report of a Case with Cleft Palate , Am. J. Dis. Child. 78:417 ( (Sept.) ) 1949.Crossref 2. McKusick, V. A.: Heritable Disorders of Connective Tissue: III. The Marfan's Syndrome , J. Chron. Dis. 2:609 ( (Dec.) ) 1955.Crossref 3. Rados, A.: Marfan's Syndrome: Arachnodactyly Coupled with Dislocation of Lens , Arch. Ophth. 27:477 ( (March) ) 1942.Crossref 4. Chace, R. R.: Congenital Bilateral Subluxation of the Lens: Report of a Family , Arch. Ophth. 34:425 ( (Nov.) ) 1945.Crossref 5. Clapp, C. A.: Report on a Family with Ectopia Lentis , Am. J. Ophth. 27:738 ( (July) ) 1944. 6. Falls, H. F., and Cotterman, C. W.: Genetic Studies on Ectopia Lentis: A Pedigree of Simple Ectopia of the Lens , Arch. Ophth. 30:610 ( (Nov.) ) 1943.Crossref 7. Lloyd, R. I.: Clinical Course of Ocular Complications of Arachnodactyly , Arch. Ophth. 40: 558 ( (Nov.) ) 1948.Crossref 8. Meyer, E. J.: Familial Ectopia Lentis and Its Complications , Brit. J. Ophth. 38:163 ( (March) ) 1954.Crossref 9. Lutman, F. C., and Neel, J. V.: Inheritance of Arachnodactyly, Ectopia Lentis and other Congenital Anomalies (Marfan's Syndrome) in the E. Family , Arch. Ophth. 41:276 ( (March) ) 1949.Crossref 10. Lloyd, R. I.: The Clinical Course of the Eye Complications of Arachnodactyly , Tr. Am. Ophth. Soc. 45:342, 1947. 11. Chandler, P. A.: Surgery of the Lens in Infancy and Childhood , A. M. A. Arch. Ophth. 45:125 ( (Feb.) ) 1951.Crossref 12. Krantz, D.: Marfan's Syndrome , Am. J. Ophth. 39:576 ( (April) ) 1955. 13. McGraw, J. L.: Marfan's Syndrome with Unusual Complications: Report of a Case , Arch. Ophth. 34:112 ( (Aug.) ) 1945.Crossref 14. Baer, R. W.; Taussig, H. B., and Oppenheimer, E. H.: Congenital Aneurysmal Dilatation of the Aorta Associated with Arachnodactyly , Bull. Johns Hopkins Hosp. 6:309 ( (June) ) 1943. 15. Anderson, M., and Pratt-Thomas, H. R.: Marfan's Syndrome , Am. Heart J. 46:911 ( (Dec.) ) 1953.Crossref 16. Schorr, S.; Braun, K., and Wildman, J.: Congenital Aneurysmal Dilatation of the Ascending Aorta Associated with Arachnodactyly , Am. Heart J. 42:610 ( (Oct.) ) 1951.Crossref 17. Tung, H. L., and Liebow, A. A.: Marfan's Syndrome: Observations at Necropsy with Special Reference to Medionecrosis of the Great Vessels , Lab. Invest. 1:382, 1952. 18. Steinberg, I., and Aneurysmal Dilatation of the Aortic Sinuses in Arachnodactyly , Ann. Int. Med. 43:120 ( (July) ) 1955.Crossref 19. Uveyama, H.; Kondo, B., and Kamins, M.: Arachnodactylia and Cardiovascular Disease: Report of Autopsied Case with Summary of Previous Autopsied Cases , Am. Heart J. 34:580 ( (Oct.) ) 1947.Crossref 20. Whittaker, S. R., and Sheehan, J. D.: Dissecting Aortic Aneurysm in Marfan's Syndrome , Lancet 2:791 ( (Oct. 16) ) 1954.Crossref 21. MacLeod, M., and Williams, A. W.: The Cardiovascular Lesions in Marfan's Syndrome , A. M. A. Arch. Path. 61:143 ( (Feb.) ) 1956. 22. Sloper, J. C., and Story, G.: Aneurysms of the Ascending Aorta Due to Medial Degeneration Associated with Arachnodactyly (Marfan's Disease) , J. Clin. Path. 6:299 ( (Nov.) ) 1953.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png A.M.A. Archives of Ophthalmology American Medical Association

Marfan's Syndrome: A Report of Its Inheritance in Four Generations

A.M.A. Archives of Ophthalmology , Volume 60 (3) – Sep 1, 1958

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Publisher
American Medical Association
Copyright
Copyright © 1958 American Medical Association. All Rights Reserved.
ISSN
0096-6339
DOI
10.1001/archopht.1958.00940080510024
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Abstract

Abstract Voluminous literature has accumulated on Marfan's syndrome since Marfan's original description in 1896 of a child with symmetrical elongation of the extremities, muscular deficiency, and loss of subcutaneous fat. Numerous clinical reports have delineated a syndrome of widespread skeletal, ocular, and cardiovascular defects, with the emphasis of such investigations shifting in recent years to reports of alterations in the great vessels and their late effects. Recent reviews of the subject, namely, those of Ross in 19491 and of McKusick in 1955,2 have summarized these clinical observations since Rados' article in 1942,3 and further survey at this time is probably unnecessary. There have been, however, comparatively few reports of the inheritance of these defects in a familial pattern.4-9 Recently I have had an opportunity to observe various manifestations of Marfan's syndrome in a four-generation kinship. Believing that such documentation will be useful in studying the genetics of References 1. Ross, L. J.: Arachnodactyly: Review of Recent Literature and Report of a Case with Cleft Palate , Am. J. Dis. Child. 78:417 ( (Sept.) ) 1949.Crossref 2. McKusick, V. A.: Heritable Disorders of Connective Tissue: III. The Marfan's Syndrome , J. Chron. Dis. 2:609 ( (Dec.) ) 1955.Crossref 3. Rados, A.: Marfan's Syndrome: Arachnodactyly Coupled with Dislocation of Lens , Arch. Ophth. 27:477 ( (March) ) 1942.Crossref 4. Chace, R. R.: Congenital Bilateral Subluxation of the Lens: Report of a Family , Arch. Ophth. 34:425 ( (Nov.) ) 1945.Crossref 5. Clapp, C. A.: Report on a Family with Ectopia Lentis , Am. J. Ophth. 27:738 ( (July) ) 1944. 6. Falls, H. F., and Cotterman, C. W.: Genetic Studies on Ectopia Lentis: A Pedigree of Simple Ectopia of the Lens , Arch. Ophth. 30:610 ( (Nov.) ) 1943.Crossref 7. Lloyd, R. I.: Clinical Course of Ocular Complications of Arachnodactyly , Arch. Ophth. 40: 558 ( (Nov.) ) 1948.Crossref 8. Meyer, E. J.: Familial Ectopia Lentis and Its Complications , Brit. J. Ophth. 38:163 ( (March) ) 1954.Crossref 9. Lutman, F. C., and Neel, J. V.: Inheritance of Arachnodactyly, Ectopia Lentis and other Congenital Anomalies (Marfan's Syndrome) in the E. Family , Arch. Ophth. 41:276 ( (March) ) 1949.Crossref 10. Lloyd, R. I.: The Clinical Course of the Eye Complications of Arachnodactyly , Tr. Am. Ophth. Soc. 45:342, 1947. 11. Chandler, P. A.: Surgery of the Lens in Infancy and Childhood , A. M. A. Arch. Ophth. 45:125 ( (Feb.) ) 1951.Crossref 12. Krantz, D.: Marfan's Syndrome , Am. J. Ophth. 39:576 ( (April) ) 1955. 13. McGraw, J. L.: Marfan's Syndrome with Unusual Complications: Report of a Case , Arch. Ophth. 34:112 ( (Aug.) ) 1945.Crossref 14. Baer, R. W.; Taussig, H. B., and Oppenheimer, E. H.: Congenital Aneurysmal Dilatation of the Aorta Associated with Arachnodactyly , Bull. Johns Hopkins Hosp. 6:309 ( (June) ) 1943. 15. Anderson, M., and Pratt-Thomas, H. R.: Marfan's Syndrome , Am. Heart J. 46:911 ( (Dec.) ) 1953.Crossref 16. Schorr, S.; Braun, K., and Wildman, J.: Congenital Aneurysmal Dilatation of the Ascending Aorta Associated with Arachnodactyly , Am. Heart J. 42:610 ( (Oct.) ) 1951.Crossref 17. Tung, H. L., and Liebow, A. A.: Marfan's Syndrome: Observations at Necropsy with Special Reference to Medionecrosis of the Great Vessels , Lab. Invest. 1:382, 1952. 18. Steinberg, I., and Aneurysmal Dilatation of the Aortic Sinuses in Arachnodactyly , Ann. Int. Med. 43:120 ( (July) ) 1955.Crossref 19. Uveyama, H.; Kondo, B., and Kamins, M.: Arachnodactylia and Cardiovascular Disease: Report of Autopsied Case with Summary of Previous Autopsied Cases , Am. Heart J. 34:580 ( (Oct.) ) 1947.Crossref 20. Whittaker, S. R., and Sheehan, J. D.: Dissecting Aortic Aneurysm in Marfan's Syndrome , Lancet 2:791 ( (Oct. 16) ) 1954.Crossref 21. MacLeod, M., and Williams, A. W.: The Cardiovascular Lesions in Marfan's Syndrome , A. M. A. Arch. Path. 61:143 ( (Feb.) ) 1956. 22. Sloper, J. C., and Story, G.: Aneurysms of the Ascending Aorta Due to Medial Degeneration Associated with Arachnodactyly (Marfan's Disease) , J. Clin. Path. 6:299 ( (Nov.) ) 1953.Crossref

Journal

A.M.A. Archives of OphthalmologyAmerican Medical Association

Published: Sep 1, 1958

References