{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T11:41:25Z","timestamp":1787312485471,"version":"build-2736575974"},"reference-count":25,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2016,6,3]],"date-time":"2016-06-03T00:00:00Z","timestamp":1464912000000},"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":[[2016,8]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Achondroplasia is the most common form of short limb dwarfism in humans. The shortening of the limb lengths in achondroplasia is widely described as \u201crhizomelic.\u201d While this appearance may be convincing clinically, the description is not necessarily true or helpful radiologically. The aims of this study, were therefore, to determine whether rhizomelic shortening is a true feature of achondroplasia at diagnosis in infancy. Humeral, radial, femoral, and tibial diaphyseal lengths were recorded by two independent observers from 22 skeletal surveys of infants with achondroplasia and compared with 150 normal age\u2010matched control subjects. Upper and lower limb bone length ratios (radial\/humeral and tibial\/femoral lengths, respectively) in both groups were compared using an unpaired t\u2010test. Mean upper limb length ratios were statistically higher within the achondroplasia group at 0.87\u2009\u00b1\u20090.04 (n\u2009=\u200922, mean age 70\u2009\u00b1\u200994 days) compared to normal controls at 0.79\u2009\u00b1\u20090.02 (n\u2009=\u2009150, mean age 113 days\u2009\u00b1\u200988 days;\n                      <jats:italic>P<\/jats:italic>\n                      \u2009&lt;\u20090.0001). Lower limb length ratios were not significantly different between groups (0.84\u2009\u00b1\u20090.04 vs. 0.83\u2009\u00b1\u20090.02,\n                      <jats:italic>P<\/jats:italic>\n                      \u2009=\u20090.46). There was good inter\u2010observer agreement of limb length measurements, with an average measurement difference of 0.1\u2009\u00b1\u20091.4\u2009mm. In conclusion, infants with achondroplasia demonstrate statistically significant rhizomelic shortening within the upper limbs, but not lower limbs at diagnosis, compared to normal controls. The term \u201crhizomelic shortening\u201d in relation to achondroplasia should be reserved when describing upper limb proportions. \u00a9 2016 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.37776","type":"journal-article","created":{"date-parts":[[2016,6,3]],"date-time":"2016-06-03T01:12:55Z","timestamp":1464916375000},"page":"2039-2043","source":"Crossref","is-referenced-by-count":15,"title":["Achondroplasia: Really rhizomelic?"],"prefix":"10.1002","volume":"170","author":[{"given":"Susan Cheng","family":"Shelmerdine","sequence":"first","affiliation":[{"name":"Department of Diagnostic Imaging The Hospital for Sick Children Toronto, Ontario Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Brittain","sequence":"additional","affiliation":[{"name":"Department of Radiology Great Ormond Street Hospital for Children NHS Foundation Trust London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Owen J.","family":"Arthurs","sequence":"additional","affiliation":[{"name":"Department of Radiology Great Ormond Street Hospital for Children NHS Foundation Trust London United Kingdom"},{"name":"Institute of Child Health University College London London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alistair D.","family":"Calder","sequence":"additional","affiliation":[{"name":"Department of Radiology Great Ormond Street Hospital for Children NHS Foundation Trust London United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,6,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1948.02030020291002"},{"key":"e_1_2_6_3_1","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1007\/3-540-30361-8","volume-title":"Abnormal skeletal phenotypes: From simple signs to complex diagnoses","author":"Castriota\u2010Scanderbeg A","year":"2005"},{"key":"e_1_2_6_4_1","first-page":"4","article-title":"Pediatric radiological signs","volume":"1","author":"Grunebaum M","year":"2005","journal-title":"Universe"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(07)61090-3"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0b013e32833b7a69"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.100.1.12"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1302\/0301-620X.89B1.18223"},{"key":"e_1_2_6_9_1","first-page":"210","volume-title":"Lovell and Winter's pediatric orthopaedics","author":"Lovell WW","year":"2005"},{"key":"e_1_2_6_10_1","first-page":"725","article-title":"Linear growth of long bones of extremities from infancy through adolescence","volume":"89","author":"Maresh MM","year":"1955","journal-title":"AMA Am J Dis Child"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1442-200X.2001.01416.x"},{"key":"e_1_2_6_12_1","first-page":"54","article-title":"Two cases of achondroplasia","volume":"3","author":"Milne R","year":"1910","journal-title":"Proc R Soc Med"},{"key":"e_1_2_6_13_1","first-page":"1583","article-title":"Achondroplasia in a child, aged 4 years","volume":"23","author":"Morgan B","year":"1930","journal-title":"Proc R Soc Med"},{"key":"e_1_2_6_14_1","unstructured":"National Organisation for Rare Disorders2002. 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