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Until now, only 30 patients have been reported in the medical literature (nine of them from Brazil, including the three cases described in the present article). This study describes three siblings with GAPO syndrome, two female and one male, the children of consanguineous parents (first\u2010degree cousins, inbreeding F\u2009=\u20091\/16), who are older than the previously described patients, presenting the characteristic phenotype besides serious bone alterations in the lower limbs, which had not yet been observed. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32157","type":"journal-article","created":{"date-parts":[[2008,5,9]],"date-time":"2008-05-09T18:46:34Z","timestamp":1210358794000},"page":"1523-1529","source":"Crossref","is-referenced-by-count":21,"title":["GAPO syndrome: Three new Brazilian cases, additional osseous manifestations, and review of the literature"],"prefix":"10.1002","volume":"146A","author":[{"given":"Eny Maria","family":"Goloni\u2010Bertollo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariangela Torreglosa","family":"Ruiz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina B. Vendrame","family":"Goloni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcos Pontes","family":"Muniz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nelson Iguimar","family":"Val\u00e9rio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c9rika Cristina","family":"Pavarino\u2010Bertelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,5,9]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"484","article-title":"Et tilfaelde of total pseudoanodontia forbindelse med craniedeformitet, dvaergvaekst og ektodermal dysplasia","volume":"55","author":"Andersen TH","year":"1947","journal-title":"Odont Tids"},{"key":"e_1_2_5_3_1","first-page":"189","article-title":"GAPO syndrome: A new case of this rare syndrome and a review 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