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Case Studies1 June 1965The Nephropathy of Hereditary Osteo-onychodysplasiaROBERT G. MUTH, M.D., F.A.C.P.ROBERT G. MUTH, M.D., F.A.C.P.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-62-6-1279 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptHereditary osteo-onychodysplasia is a genetically dominant syndrome characterized chiefly by dysplasia of the fingernails, the presence of iliac horns, hypoplastic or absent patellae, and deformities or luxation of the head of the radius. Hereditary anomalies of the bones and nails were probably mentioned as early as 1820 and were first reported in 1897 (1). The earlier reports mentioned deformities of the fingernails and patellae (2). In 1925 (3) abnormalities of the nails, patellae, and elbows were reported. Turner (4) in 1933 published the first rather comprehensive report of the syndrome. In his report, a pelvic roentgenogram clearly demonstrated large iliac...References1. LITTLE EM: Congenital or delayed development of patella. Lancet 2: 781, 1897. CrossrefGoogle Scholar2. RUBIN G: Congenital absence of patellae and other patellar anomalies in three members of same family. JAMA 64: 2062, 1915. CrossrefGoogle Scholar3. TRAUNERRIEGER RH: Eine familie mit 6 fällen von luxatio radii congenita mit übereinstimmenden anomalien der finger und kniegelenke so wie der nägelbildung in vier generationen. Arch. Klin. Chir. 137: 659, 1925. Google Scholar4. TURNER JW: An hereditary arthrodysplasia associated with hereditary dystrophy of the nails. JAMA 100: 882, 1933. CrossrefGoogle Scholar5. FONG EE: "Iliac horns." (Symmetrical bilateral central posterior iliac processes.) Radiology 47: 517, 1946. CrossrefMedlineGoogle Scholar6. CARBONARAALPERT PM: Hereditary osteo-onychodysplasia (HOOD). Amer. J. Med. Sci. 248: 139, 1964. CrossrefMedlineGoogle Scholar7. HAWKINSSMITH CFOE: Renal dysplasia in a family with multiple hereditary abnormalities including iliac horns. The Lancet 1: 803, 1950. CrossrefMedlineGoogle Scholar8. BRIXEYBURKE AMRM: Arthro-onychodysplasia. Amer. J. Med. 8: 738, 1950. CrossrefMedlineGoogle Scholar9. MUTHRILEY RGP: Hereditary osteo-onychodysplasia: an evaluation of a family with unusual skeletal dysplasias. In preparation. Google Scholar10. GUTHRIE L: Chronic interstitial nephritis in childhood. Lancet 1: 587, 1897. Google Scholar11. ALPORT AC: Hereditary familial haemorrhagic nephritis. Brit. Med. J. 1: 504, 1927. CrossrefMedlineGoogle Scholar12. PERKOFFSTEPHENSDOLOWITZTYLER GTFEDAFH: A clinical study of hereditary interstitial pyelonephritis. Arch. Intern. Med. (Chicago) 88: 191, 1951. CrossrefGoogle Scholar13. WHALENHUANGPESCHELMCINTOSH RESEHD: Hereditary nephropathy, deafness and renal foam cells. Amer. J. Med. 31: 171, 1961. CrossrefMedlineGoogle Scholar14. LESTER AM: A familial dyschondroplasia associated with anonychia and other deformities. Lancet 2: 1519, 1936. CrossrefGoogle Scholar15. PERKOFF GT: Hereditary chronic nephritis, in Diseases of the Kidney, edited by STRAUSS, M. B., WELT, L. G., Little, Brown and Company, Boston, 1963, p. 959. Google Scholar16. RENWICKLAWLER JHSD: Genetic linkage between the ABO and nail-patella loci. Ann. Hum. Genet. 19: 312, 1955. CrossrefMedlineGoogle Scholar17. JAMESONLAWLERRENWICK RJSDJH: Nail-patella syndrome: clinical and linkage data on family G. Ann. Hum. Genet. 20: 348, 1956. CrossrefMedlineGoogle Scholar18. LAWLERRENWICKWILDERVANCK SDJHLS: Further families showing linkage between the ABO and nail-patella loci with no evidence of heterogeneity. Ann. Hum. Genet. 21: 410, 1957. CrossrefMedlineGoogle Scholar19. LAWLERRENWICKMOSBECKWILDERVANCK SDJHHJLS: Linkage tests involving the P blood group locus and further data on the ABO: nail-patella linkage. Ann. Hum. Genet. 22: 342, 1958. CrossrefMedlineGoogle Scholar20. GOODALL CM: Nail-patella syndrome coupled with blood group B in a New Zealand family. Ann. Hum. Genet. 26: 243, 1963. CrossrefMedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Kansas City, MissouriFrom the Department of Medicine, University of Missouri School of Medicine in Kansas City General Hospital and Medical Center, Kansas City, Mo.Requests for reprints should be addressed to Robert G. Muth, M.D., Assistant Professor of Medicine, Department of Medicine, University of Missouri School of Medicine in Kansas City, 24th and Cherry Streets, Kansas City, Mo. 64108. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byRenal involvement in nail-patella syndrome: report of three casesInherited Diseases of the Glomerular Basement MembraneGenetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy.Membranous Nephropathy in a Patient with Nail-Patella Syndrome NephropathyThe Nail-Patella SyndromeThe Nail-Patella-Elbow Syndrome: A Case ReportThe nephropathy of the nail-patella syndromeRenal disease in nail-patella syndrome: Clinical and morphologic studiesTHE NAIL‐PATELLA SYNDROMEThe Hereditary Renal DiseasesA FAMILY WITH ALPORT'S SYNDROME OF HEREDITARY NEPHRITIS AND DEAFNESS 1 June 1965Volume 62, Issue 6Page: 1279-1285KeywordsBoneDysplasiaElbowGlomerulonephritisHospital medicineLesionsProteinuria Issue Published: 1 June 1965 PDF downloadLoading ...
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