{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T15:52:26Z","timestamp":1770133946274,"version":"3.49.0"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,12,19]],"date-time":"2013-12-19T00:00:00Z","timestamp":1387411200000},"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":[[2014,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Trichorhinophalangeal syndrome (TRPS) is a rare, autosomal dominant malformation syndrome characterized by hair, craniofacial and skeletal abnormalities, skin laxity, deformation of phalanges and anomalies of pelvis, femurs, and tibias. Three subtypes have been described: TRPS I, caused by mutations in <jats:italic>TRPS1<\/jats:italic> gene on chromosome 8; TRPS II, a microdeletion syndrome affecting the <jats:italic>TRPS1<\/jats:italic> and <jats:italic>EXT1<\/jats:italic> genes; and TRPS III, a form with severe brachydactyly, due to short metacarpals, and severe short stature, but without exostoses. We present the case of a 7\u2010year\u2010old boy, affected by TRPS with a severe osteoporosis and several spontaneous bone fractures, an association described only once in the literature, successfully treated with biphosphonates. Bone mineral density (BMD) at dual\u2010energy X\u2010ray Absorptiometry (DXA) was of 0.331\u2009g\/cm<jats:sup>2<\/jats:sup> at lumbar spine with. He had four spontaneous femoral fractures in a year, and for this reason he was been operated for positioning intramedullary osteosynthesis and orthopedic supports. Due to the severity of the clinical and radiological pattern it was established, after approval of the Ethical Committee, to begin off\u2010label therapy with infusions of neridronate at a dose of 2\u2009mg\/kg IV every 3 months. The treatment was, in this patient, effective both in terms of clinical (absence of new fractures) and mineralomethric (+45% BMD ath the lumbar level). We therefore suggest that treatment with biphosponates can be taken in account as a possible therapeutic option in case of bone fragility in patients with TRPSI. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36327","type":"journal-article","created":{"date-parts":[[2013,12,19]],"date-time":"2013-12-19T20:16:43Z","timestamp":1387484203000},"page":"760-763","source":"Crossref","is-referenced-by-count":9,"title":["Thricho\u2010rhino\u2010phalangeal syndrome and severe osteoporosis: A rare association or a feature? An effective therapeutic approach with biphosphonates"],"prefix":"10.1002","volume":"164","author":[{"given":"M.","family":"Macchiaiolo","sequence":"first","affiliation":[{"name":"Rare Disease and Medical Genetics Unit Bambino Ges\u00f9 Children's Hospital Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Mennini","sequence":"additional","affiliation":[{"name":"Rare Disease and Medical Genetics Unit Bambino Ges\u00f9 Children's Hospital Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.C.","family":"Digilio","sequence":"additional","affiliation":[{"name":"Rare Disease and Medical Genetics Unit Bambino Ges\u00f9 Children's Hospital Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.S.","family":"Buonuomo","sequence":"additional","affiliation":[{"name":"Rare Disease and Medical Genetics Unit Bambino Ges\u00f9 Children's Hospital Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.R.","family":"Lepri","sequence":"additional","affiliation":[{"name":"Cytogenetics and Molecular Genetics Unit Bambino Ges\u00f9 Children's Hospital Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Gnazzo","sequence":"additional","affiliation":[{"name":"Cytogenetics and Molecular Genetics Unit Bambino Ges\u00f9 Children's Hospital Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Grandin","sequence":"additional","affiliation":[{"name":"General Pediatrics and Infecive disease Unit Bambino Ges\u00f9 Children's Hospital Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Angioni","sequence":"additional","affiliation":[{"name":"Cytogenetics and Molecular Genetics Unit Bambino Ges\u00f9 Children's Hospital Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Bartuli","sequence":"additional","affiliation":[{"name":"Rare Disease and Medical Genetics Unit Bambino Ges\u00f9 Children's Hospital Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,12,19]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.2106\/JBJS.K.00751"},{"key":"e_1_2_4_3_1","first-page":"475","article-title":"Das tricho\u2010rhino\u2010phalangeale syndrome","volume":"21","author":"Giedon A","year":"1966","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_4_4_1","first-page":"147","article-title":"Langer\u2013Giedion syndrome","volume":"10","author":"Hall BD","year":"1974","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/316926"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/20.7.1715"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/14651858.CD005088.pub2"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)60599-1"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01434.x"},{"key":"e_1_2_4_10_1","first-page":"1583","article-title":"A novel mutation in TPRS1 gene caused tricho\u2010rhino\u2010phalangeal syndrome in a Chinese patientwith severe osteoporosis","volume":"124","author":"Shao C","year":"2011","journal-title":"Chin Med J (Engl)"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32348"}],"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.36327","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36327","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T20:09:28Z","timestamp":1696622968000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36327"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,19]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,3]]}},"alternative-id":["10.1002\/ajmg.a.36327"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36327","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12,19]]}}}