{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T15:31:16Z","timestamp":1784043076597,"version":"3.55.0"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4902,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on 2 sibs with manifestations of the Kenny\u2013Caffey syndrome born to normal, consanguineous parents. Clinical manifestations included dwarfism, internal cortical thickening and medullary stenosis of tubular bones, poorly ossified skull bones, and hypocalcemia. The younger of the two died during a tonic convulsion. The older had neonatal hypoparathyroidism and is now a short intelligent, 1\u2010year\u2010old child. This family gives new support to the existence of an autosomal recessive variant of the syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320420123","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:33:06Z","timestamp":1118550786000},"page":"112-116","source":"Crossref","is-referenced-by-count":51,"title":["Kenny\u2013Caffey syndrome in two sibs born to consanguineous parents: Evidence for an autosomal recessive variant"],"prefix":"10.1002","volume":"42","author":[{"given":"P.","family":"Franceschini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Testa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Bogetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Girardo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Guala","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Lopez\u2010Bell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Buzio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Ferrario","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Piccato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00451452"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1979.01020010454012"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.100.1.1"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(86)80120-2"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1148\/91.3.457"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1966.02090050133013"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(85)90227-X"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140419"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441706"},{"key":"e_1_2_1_11_1","first-page":"373","article-title":"Estenosis tubular diafisaria (sindrome de Kenny\u2013Caffey): presentacion de cuatro observaciones","volume":"13","author":"Sarria A","year":"1980","journal-title":"An Esp Pediatr"},{"key":"e_1_2_1_12_1","first-page":"1191A","article-title":"Severe dwarfism associated with hypocalcemia and unusual parathyroid hormone (PTH) findings (Abstr)","volume":"15","author":"Wieland P","year":"1981","journal-title":"Pediatr Res"},{"issue":"12","key":"e_1_2_1_13_1","first-page":"129","article-title":"Dwarfism and congenital medullary stenosis (Kenny syndrome)","volume":"10","author":"Wilson MG","year":"1974","journal-title":"Birth Defects"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320420123","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320420123","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T13:49:08Z","timestamp":1698068948000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320420123"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,1]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1992,1]]}},"alternative-id":["10.1002\/ajmg.1320420123"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320420123","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,1]]}}}