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We endeavored to investigate the full spectrum of skeletal anomalies in a genetically diverse cohort of RS patients with a focus on the bone micro\u2010architecture. Seven individuals with molecularly confirmed RS, including four with <jats:italic>DVL1<\/jats:italic> variants and single individuals with variants in <jats:italic>WNT5A<\/jats:italic>, <jats:italic>ROR2<\/jats:italic>, and <jats:italic>GPC4<\/jats:italic> underwent a musculoskeletal focused physical examination, dual\u2010energy X\u2010ray absorptiometry (DEXA) scan, and high\u2010resolution peripheral quantitative computed tomography (HR\u2010pQCT). Skeletal examination revealed variability in limb shortening anomalies consistent with recent reports. DEXA scan measures revealed increased total body bone mineral density (BMD) (3\/7), cranial BMD (5\/7), and non\u2010cranial BMD (1\/7). Cranial osteosclerosis was only observed in <jats:italic>DVL1<\/jats:italic>\u2010RS (4\/4) and <jats:italic>GPC4<\/jats:italic>\u2010RS (1\/1) subjects and in one case was complicated by choanal atresia, bilateral conductive hearing loss, and cranial nerve III, VI, and VII palsy. HR\u2010pQCT revealed a unique pattern of low cortical BMD, increased trabecular BMD, decreased number of trabeculations, and increased thickness of the trabeculations for the <jats:italic>DVL1<\/jats:italic>\u2010RS subjects. The spectrum of skeletal anomalies including the micro\u2010architecture of the bones observed in RS has considerable variability with some osteosclerosis genotype\u2013phenotype correlations more frequent with <jats:italic>DVL1<\/jats:italic> variants.<\/jats:p>","DOI":"10.1002\/ajmg.a.61843","type":"journal-article","created":{"date-parts":[[2020,9,5]],"date-time":"2020-09-05T11:47:09Z","timestamp":1599306429000},"page":"2632-2640","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Characterization of the Robinow syndrome skeletal phenotype, bone micro\u2010architecture, and genotype\u2013phenotype correlations with the osteosclerotic form"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4657-6454","authenticated-orcid":false,"given":"Brian J.","family":"Shayota","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chaofan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roman J.","family":"Shypailo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6161-0510","authenticated-orcid":false,"given":"Juliana F.","family":"Mazzeu","sequence":"additional","affiliation":[{"name":"Division of Clinical Medicine University of Bras\u00edlia  Bras\u00edlia Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2090-298X","authenticated-orcid":false,"given":"Claudia M. B.","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6450-8554","authenticated-orcid":false,"given":"V. Reid","family":"Sutton","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Hospital  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,9,5]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/78107"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.5.537"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/78113"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36677"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.02.010"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2873"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archoto.2011.1459"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.025825"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1975.02120400081022"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.080216"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.maturitas.2014.04.013"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31592"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(02)02770-1"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm3470"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.22156"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1969.02100030647005"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12401"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1982.03970430026007"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2011.03.018"},{"key":"e_1_2_9_21_1","unstructured":"Team R. 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