Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

Multiple Congenital Abnormalities: The Association of Seven Defects Including Multiple Exostoses, von Willebrand's Disease, and Bilateral Winged Scapula

Multiple Congenital Abnormalities: The Association of Seven Defects Including Multiple Exostoses,... Abstract Clinicians do not often diagnose multiple mutations, preferring to attribute congenital abnormalities to developmental problems or to the widespread effects of a single gene. Yet in lower forms, where genetic defects are easier to recognize, multiple mutations can occur for a variety of reasons. The purpose of this paper is to describe a patient with a group of unusual disorders and to develop the concept that multiple mutations can occur in humans. Patient Summary The patient, a 35-year-old woman, has been followed-up for five years because of swelling of the right hip and repeated abortions. Roentgenograms of her bones since childhood have repeatedly shown "tumors" and her shoulder blades have been prominent since birth. Since infancy she has had recurrent ecchymoses, and from the ages of 9 to 15 years she had repeated transient swelling of the left leg. She bled excessively after a tooth extraction when she was 10 References 1. Jaffe HL: Tumors and Tumorous Conditions of the Bones and Joints . Philadelphia, Lea & Febiger, 1958, p 143. 2. Strauss HS, Bloom GE: Von Willebrand's disease: Use of platelet adhesive test in diagnosis and family investigation. New Eng J Med 273:171-181, 1965.Crossref 3. Knight JD: Sarcomatous changes in three brothers with Diaphyseal aclasis. Brit Med J 5178:1013-1015, 1960.Crossref 4. Todd JM, Hill ST, Nickerson JT, et al: Hereditary multiple exostosis, pseudo-pseudohypoparathyroidism and genetic defects of bone calcium and phosphorus metabolism. Amer J Med 30:289-298, 1961.Crossref 5. Steinbach HL, Young DA: The roentgen appearance of pseudohypoparathyroidism (PH) and pseudo-pseudohypoparathyroidism (PPH). Differentiation from other syndromes associated with short metacarpals, metatarsals and phalanges. Amer J Roentgen 97:49-66, 1966.Crossref 6. Kuhns JG, Hormell RS: Management of congenital scoliosis: Review of 170 cases. Arch Surg 65:250-263, 1952.Crossref 7. Overpeck DO, Ghormley RK: Paralysis of the serratus magnus muscle. JAMA 114:1994-1996,1940. 8. Hassin GB: A case of bilateral serratus magnus and unilateral radial nerve paralysis. Arch Neurol Psychiat 8:580-581, 1922.Crossref 9. Hulmary S: Winged scapula caused by solitary exostosis. Brit Med J 1:461-462, 1955.Crossref 10. Nilsson IM, Blomback M, Jorpes E, et al: Von Willebrand's disease and its correction with plasma fraction I-O. Acta Med Scand 159:179-188, 1957.Crossref 11. Meyer D, Larrieu MJ, Marateau P, et al: Biological findings in von Willebrand's pedigrees: Implications in inheritance. J Clin Path 20:190-194, 1967.Crossref 12. Shulman R, Cowan DH, Libre CP, et al: The physiologic basis for therapy of classic hemophilia (factor VIII deficiency) and related disorders: Combined clinic staff conference at the National Institutes of Health. Ann Intern Med 67:856-882,1967.Crossref 13. Jacob T, Manod J: Genetic regulatory mechanisms in the synthesis of protein. J Molec Biol 3:318-356, 1961.Crossref 14. Miyake Y: Mutation factor in Salmonella typhimurium. Genetics 45:11-14, 1960. 15. Crick FHC, Barnett L, Brenner S, et al: General nature of the genetic code for proteins. Nature 192:1227-1232, 1961.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Internal Medicine American Medical Association

Multiple Congenital Abnormalities: The Association of Seven Defects Including Multiple Exostoses, von Willebrand's Disease, and Bilateral Winged Scapula

Archives of Internal Medicine , Volume 129 (6) – Jun 1, 1972

Loading next page...
 
/lp/american-medical-association/multiple-congenital-abnormalities-the-association-of-seven-defects-m0Xtp0m3or
Publisher
American Medical Association
Copyright
Copyright © 1972 American Medical Association. All Rights Reserved.
ISSN
0003-9926
eISSN
1538-3679
DOI
10.1001/archinte.1972.00320060120016
Publisher site
See Article on Publisher Site

Abstract

Abstract Clinicians do not often diagnose multiple mutations, preferring to attribute congenital abnormalities to developmental problems or to the widespread effects of a single gene. Yet in lower forms, where genetic defects are easier to recognize, multiple mutations can occur for a variety of reasons. The purpose of this paper is to describe a patient with a group of unusual disorders and to develop the concept that multiple mutations can occur in humans. Patient Summary The patient, a 35-year-old woman, has been followed-up for five years because of swelling of the right hip and repeated abortions. Roentgenograms of her bones since childhood have repeatedly shown "tumors" and her shoulder blades have been prominent since birth. Since infancy she has had recurrent ecchymoses, and from the ages of 9 to 15 years she had repeated transient swelling of the left leg. She bled excessively after a tooth extraction when she was 10 References 1. Jaffe HL: Tumors and Tumorous Conditions of the Bones and Joints . Philadelphia, Lea & Febiger, 1958, p 143. 2. Strauss HS, Bloom GE: Von Willebrand's disease: Use of platelet adhesive test in diagnosis and family investigation. New Eng J Med 273:171-181, 1965.Crossref 3. Knight JD: Sarcomatous changes in three brothers with Diaphyseal aclasis. Brit Med J 5178:1013-1015, 1960.Crossref 4. Todd JM, Hill ST, Nickerson JT, et al: Hereditary multiple exostosis, pseudo-pseudohypoparathyroidism and genetic defects of bone calcium and phosphorus metabolism. Amer J Med 30:289-298, 1961.Crossref 5. Steinbach HL, Young DA: The roentgen appearance of pseudohypoparathyroidism (PH) and pseudo-pseudohypoparathyroidism (PPH). Differentiation from other syndromes associated with short metacarpals, metatarsals and phalanges. Amer J Roentgen 97:49-66, 1966.Crossref 6. Kuhns JG, Hormell RS: Management of congenital scoliosis: Review of 170 cases. Arch Surg 65:250-263, 1952.Crossref 7. Overpeck DO, Ghormley RK: Paralysis of the serratus magnus muscle. JAMA 114:1994-1996,1940. 8. Hassin GB: A case of bilateral serratus magnus and unilateral radial nerve paralysis. Arch Neurol Psychiat 8:580-581, 1922.Crossref 9. Hulmary S: Winged scapula caused by solitary exostosis. Brit Med J 1:461-462, 1955.Crossref 10. Nilsson IM, Blomback M, Jorpes E, et al: Von Willebrand's disease and its correction with plasma fraction I-O. Acta Med Scand 159:179-188, 1957.Crossref 11. Meyer D, Larrieu MJ, Marateau P, et al: Biological findings in von Willebrand's pedigrees: Implications in inheritance. J Clin Path 20:190-194, 1967.Crossref 12. Shulman R, Cowan DH, Libre CP, et al: The physiologic basis for therapy of classic hemophilia (factor VIII deficiency) and related disorders: Combined clinic staff conference at the National Institutes of Health. Ann Intern Med 67:856-882,1967.Crossref 13. Jacob T, Manod J: Genetic regulatory mechanisms in the synthesis of protein. J Molec Biol 3:318-356, 1961.Crossref 14. Miyake Y: Mutation factor in Salmonella typhimurium. Genetics 45:11-14, 1960. 15. Crick FHC, Barnett L, Brenner S, et al: General nature of the genetic code for proteins. Nature 192:1227-1232, 1961.Crossref

Journal

Archives of Internal MedicineAmerican Medical Association

Published: Jun 1, 1972

References