{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,5]],"date-time":"2024-08-05T00:52:27Z","timestamp":1722819147893},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2003,4,14]],"date-time":"2003-04-14T00:00:00Z","timestamp":1050278400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2003,8,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Osteolysis syndromes are characterized by resorption of affected bones with associated swelling and pain. Various forms of multicentric osteolysis syndromes including autosomal dominant and recessive carpal\u2010tarsal osteolysis, Torg, Fran\u00e7ois, Whyte\u2010Hemingway, Hajdu\u2010Cheney, Winchester, and other forms have been described. Most present in pre\u2010school years with extensive involvement and destruction of multiple bones. We present a sister\u2010pair, both of whom presented in early teenage, i.e., 13 and 15.5 years, respectively, with bilateral ankle, knee, and later, wrist pain. Radiological examination revealed bilateral osteolysis of tali, scaphoids, and patellae, and short fourth metacarpals in both sisters. Further investigation revealed absence of renal involvement, a normal excretion of amino acids, mucopolysaccharides and oligosaccharides, and presence of chronic synovitis in both sisters. Both parents and a younger brother were without radiographic or clinical evidence of the disease and there was no history of consanguinity. Thus, our sister\u2010pair presented with the same carpal and tarsal bone involvement at a much later age, with evidence of chronic synovitis, along with short fourth metacarpals (brachydactyly type E changes) and without renal disease, suggesting a new syndrome with probable autosomal recessive inheritance. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20181","type":"journal-article","created":{"date-parts":[[2003,8,5]],"date-time":"2003-08-05T15:49:12Z","timestamp":1060098552000},"page":"118-125","source":"Crossref","is-referenced-by-count":9,"title":["Talo\u2010patello\u2010scaphoid osteolysis, synovitis, and short fourth metacarpals in sisters: A new syndrome?"],"prefix":"10.1002","volume":"121A","author":[{"given":"Jasvinder A.","family":"Singh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Calvin B.","family":"Williams","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William H.","family":"McAlister","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,4,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000703)93:1<11::AID-AJMG3>3.0.CO;2-3"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000703)93:1<5::AID-AJMG2>3.0.CO;2-Y"},{"key":"e_1_2_6_4_1","doi-asserted-by":"crossref","first-page":"681","DOI":"10.2106\/00004623-197557050-00020","article-title":"Carpal and tarsal osteolysis: A case report and review of the literature","volume":"57","author":"Beals RK","year":"1975","journal-title":"J Bone Joint Surg (Am)"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981116)80:3<207::AID-AJMG5>3.0.CO;2-A"},{"key":"e_1_2_6_6_1","first-page":"145","article-title":"Dystrophie dermo\u2010chondro\u2010corneenne familiale","volume":"174","author":"Fran\u00e7ois J","year":"1950","journal-title":"Ann Pediatr"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1148\/105.2.375"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(72)80177-X"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10828"},{"key":"e_1_2_6_10_1","doi-asserted-by":"crossref","first-page":"925","DOI":"10.2106\/00004623-196749050-00009","article-title":"Osteochondritis dissecans with associated malformations in two brothers. A review of familial aspects","volume":"49","author":"Hanley WB","year":"1967","journal-title":"J Bone Joint Surg (Am)"},{"key":"e_1_2_6_11_1","first-page":"89","article-title":"The syndrome of idiopathic osteolysis. Classification, review, and case report","volume":"67","author":"Hardegger G","year":"1985","journal-title":"J Bone Joint Surg (Br)"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-9260(83)80174-3"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/90100"},{"key":"e_1_2_6_14_1","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.2106\/00004623-197254050-00021","article-title":"Carpal and tarsal agenesis with features of essential and hereditary osteolysis","volume":"54","author":"McManus LF","year":"1972","journal-title":"J Bone Joint Surg (Am)"},{"key":"e_1_2_6_15_1","first-page":"131","article-title":"Familial osteochondritis dissecans of the knee","volume":"140","author":"Mubarak SJ","year":"1979","journal-title":"Clin Orthop"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290425"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1964.03060300025005"},{"key":"e_1_2_6_18_1","first-page":"120","article-title":"Idiopathic carpotarsal osteolysis with Bartter's syndrome. A case report and review of the literature","volume":"310","author":"Szoke G","year":"1995","journal-title":"Clin Orthop"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(69)80395-1"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.126.1.23"},{"key":"e_1_2_6_21_1","first-page":"25","article-title":"Carpotarsal osteolysis. Case report and review of the literature","volume":"4","author":"Urlus M","year":"1993","journal-title":"Genet Couns"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/art.1780210313"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.106.1.121"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20181","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20181","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T16:54:03Z","timestamp":1697648043000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20181"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,4,14]]},"references-count":22,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,8,30]]}},"alternative-id":["10.1002\/ajmg.a.20181"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20181","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,4,14]]}}}