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Short fourth and\/or fifth metatarsals were identified in 65% of cases and short fourth and\/or fifth metacarpals in 57%. Metatarsal (P<\/jats:italic> = 0.045) and metacarpal (P<\/jats:italic> = 0.006) shortness were significantly more common in girls 14 years or older. Negative ulnar variance (found in 79% of cases) appeared to be independent of age. Reduced bone density in the hands was found in 86% of cases. A nationwide study using the Australian Rett Syndrome Database is planned to follow up these findings and compare them with findings from a control group. The confirmation of these abnormalities in a high proportion of cases may provide morphologic markers to assist in the diagnosis of Rett syndrome and perhaps provide a further avenue of research into the pathogenesis of this disorder. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320580316","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:08:26Z","timestamp":1118513306000},"page":"282-285","source":"Crossref","is-referenced-by-count":24,"title":["Skeletal abnormalities in Rett syndrome: Increasing evidence for dysmorphogenetic defects"],"prefix":"10.1002","volume":"58","author":[{"given":"H.","family":"Leonard","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Thomson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Bower","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Fyfe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Constantinou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,5,16]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320360125"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470407"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","first-page":"354","DOI":"10.5694\/j.1326-5377.1993.tb137884.x","article-title":"Rare disease surveillance in children","volume":"159","author":"Elliot EJ","year":"1993","journal-title":"Med Australia"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1148\/105.2.375"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1148\/100.3.509"},{"key":"e_1_2_1_7_1","volume-title":"Radiographic Allas of Skeletal Development of The Hands and Wrist","author":"Greulich WW","year":"1959"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(94)90082-5"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.7547\/87507315-76-7-413"},{"key":"e_1_2_1_10_1","doi-asserted-by":"crossref","unstructured":"KerrAM MitchellJM RobertsonPE(1994):Dysmorphic feet in Rett syndrome: Genetic or developmental marker. 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