{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T17:02:40Z","timestamp":1791824560157,"version":"4.3.4"},"reference-count":40,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1988,10]]},"abstract":"<jats:p>Hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) is an autosomal dominant condition characterised by nail dysplasia, patellar hypoplasia or aplasia, and nephropathy. The risk for HOOD patients to have a child with HOOD who will develop renal failure cannot easily be deduced from published pedigrees. We have studied a large family with 30 patients with HOOD and have analysed 34 kindreds with HOOD nephropathy from published reports, comprising 213 patients. For a patient with HOOD from a family in which HOOD nephropathy occurs, the risk of having a child with HOOD nephropathy is about 1:4; the risk of having a child in whom renal failure will develop is about 1:10.<\/jats:p>","DOI":"10.1136\/jmg.25.10.682","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"682-686","source":"Crossref","is-referenced-by-count":53,"title":["Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy."],"prefix":"10.1136","volume":"25","author":[{"suffix":"Jr","given":"B J","family":"Looij","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R L","family":"te Slaa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B L","family":"Hogewind","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J J","family":"van de Kamp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1988,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1007\/BF00284432","article-title":"Localisation of the human ABO: Np- 1: AK-1 linkage group by regional assignment of AK-1 to 9q34","volume":"34","year":"1976","unstructured":"Localisation of the human ABO:Np-1:AK-1 linkage group by regional assignment of AK-1 to 9q34. 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Nail patelia-like renal lesions in the absence of skeletal abnormalities. Am J Kidney Dis 1982;1: 237-40.","journal-title":"Am J Kidney Dis"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1002\/ajmg.1320190321","article-title":"An autosomal recessive disorder with glomerular basement membrane abnormalities similar to those seen in the nail patella syndrome: report of a kindred","volume":"19","author":"Salcedo, JR","year":"1984","unstructured":"Salcedo JR. An autosomal recessive disorder with glomerular basement membrane abnormalities similar to those seen in the nail patella syndrome: report of a kindred. Am J Med Genet 1984;19:579-84.","journal-title":"Am J Med Genet"},{"key":"ref_14","article-title":"A family with hereditary onycho-osteodysplasia. De hereditaire onycho-osteodysplasie (HOOD). Ned Tijschr Kindergeneeskd","author":"RL, Te Slaa; BJ, Jr, Looij; AJG, Noilen; EJP, Lommen","unstructured":"Te Slaa RL, Looij BJ Jr, Noilen AJG, Lommen EJP. 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Sem Hop Paris 1971;47:2949-56.","journal-title":"Sem Hop Paris"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1001\/archinte.1973.00320080107015","article-title":"Nail-patella syndrome-light and electron microscopic studies of the kidney","volume":"131","author":"Morita, T.; Laughlin, L.O.; Kawano, K.; Kimmelstiel, P.; Suzuki, Y.; Churg, J.","year":"1973","unstructured":"Morita T, Laughlin LO, Kawano K, Kimmelstiel P, Suzuki Y, Churg J, Nail-patella syndrome-light and electron microscopic studies of the kidney. 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J Bone Joint Surg [Br] 1973;55:145-62.","journal-title":"J Bone Joint Surg [Br]"},{"key":"ref_32","first-page":"57","article-title":"The nail-patella syndrome-pathogenesis of the kidney lesion","volume":"X:","author":"Vernier, R.L.; Hoyer, JR, Michael; A.F.","year":"1974","unstructured":"Vernier RL, Hoyer JR, Michael AF. The nail-patella syndrome-pathogenesis of the kidney lesion. Birth Defects 1974; X:57-9.","journal-title":"Birth Defects"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1016\/0002-9610(73)90185-2","article-title":"Renal transplantation for the nail-patella syndrome","volume":"125","author":"Uranga, V.M.; Simmons, R.L.; Hoyer, JR, Kjellstrand; CM, Buselmeier; TJ, Najarian; J.S.","year":"1973","unstructured":"Uranga VM, Simmons RL, Hoyer JR, Kjellstrand CM, Buselmeier TJ, Najarian JS. Renal transplantation for the nail-patella syndrome. 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Insuficiencia renal cr6nica como manifestaci6n de 6steo-6nico-displasia hereditaria. Rev Clin Esp 1977;147:645-7.","journal-title":"Rev Clin Esp"},{"key":"ref_36","first-page":"909","article-title":"Renal disease in the nailpatella syndrome: report of an affected family and studies of renal disease susceptibility and HLA","volume":"20","author":"Kuroda, M.; Akiyama, T.; Otani, I.","year":"1978","unstructured":"Kuroda M, Akiyama T, Otani I, et al. Renal disease in the nailpatella syndrome: report of an affected family and studies of renal disease susceptibility and HLA. Nippon Jinzo Gakkai Shi 1978;20:909-20.","journal-title":"Nippon Jinzo Gakkai Shi"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1007\/BF02926642","article-title":"Renal failure in a 44 yearold female","volume":"1","author":"Myers, H.S.; Gregory, M.; Beighton, P.","year":"1980","unstructured":"Myers HS, Gregory M, Beighton P. Renal failure in a 44 yearold female. Urol Radiol 1980;1:251-3.","journal-title":"Urol Radiol"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"440","DOI":"10.2340\/0001555560440443","article-title":"Nail-patella syndrome associated with renal failure requiring transplantation","volume":"60","author":"Verdich, J.","year":"1980","unstructured":"Verdich J. Nail-patella syndrome associated with renal failure requiring transplantation. Acta Derm Venereol (Stockh) 1980; 60:440-3.","journal-title":"Acta Derm Venereol (Stockh)"},{"key":"ref_39","first-page":"88","article-title":"La osteo-onico-distrofia ereditaria-studio su un ceppo familiare affetto","volume":"33","author":"Strada, U.; Morisi, R.","year":"1981","unstructured":"Strada U, Morisi R. La osteo-onico-distrofia ereditaria-studio su un ceppo familiare affetto. 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