{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T10:01:28Z","timestamp":1790416888845,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2011,5,12]],"date-time":"2011-05-12T00:00:00Z","timestamp":1305158400000},"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":[[2011,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Osteogenesis imperfecta (OI) is a heterogeneous group of inherited disorders of bone formation, resulting in low bone mass and an increased propensity to fracture. It exhibits a broad spectrum of clinical severity, ranging from multiple fractures in utero and perinatal death, to normal adult stature and low fracture incidence. Extra\u2010skeletal features of OI include blue sclera, hearing loss, skin hyperlaxity, joint hyperextensibility, and dentinogenesis imperfecta. The pro\u03b11(I) and pro\u03b12(I) chains of collagen 1 are encoded by the<jats:italic>COL1A1<\/jats:italic>and<jats:italic>COL1A2<\/jats:italic>genes, respectively; quantitative or qualitative defects in type I collagen synthesis usually manifest as types of OI or some sub\u2010types of EDS. The majority of patients (about 90%) with a clinical diagnosis of OI have a mutation in the<jats:italic>COL1A1<\/jats:italic>or<jats:italic>COL1A2<\/jats:italic>genes, which shows an autosomal dominant pattern of inheritance. Six other genes,<jats:italic>CRTAP<\/jats:italic>,<jats:italic>LEPRE1<\/jats:italic>,<jats:italic>FKBP10<\/jats:italic>,<jats:italic>PP1B<\/jats:italic>,<jats:italic>SP7\/Osterix<\/jats:italic>(<jats:italic>OSX<\/jats:italic>), and<jats:italic>SERPINH1<\/jats:italic>, are associated with autosomal recessive forms of OI. However, other, rare phenotypes have also been described. There are many differential diagnoses of the short, syndromic child, including chromosomal, single gene, and multifactorial causes. However, one condition of particular relevance in the context of this report is the Russell\u2013Silver syndrome (RSS). As originally described, the RSS is a very specific condition. However, it has subsequently become an umbrella term for a heterogeneous group of conditions presenting with short stature and triangular shape to the face. A significant proportion of these are now believed to be due to imprinting defects at 11p15. However, the cause in many cases remains unknown. We describe two cases with a phenotypic overlap between OI and RSS who both have<jats:italic>COL1A1<\/jats:italic>mutations. Thus, a type 1 collagenopathy should be considered in the differential diagnosis of syndromic short stature. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33998","type":"journal-article","created":{"date-parts":[[2011,5,12]],"date-time":"2011-05-12T21:40:39Z","timestamp":1305236439000},"page":"1414-1418","source":"Crossref","is-referenced-by-count":12,"title":["Type 1 collagenopathy presenting with a Russell\u2013Silver phenotype"],"prefix":"10.1002","volume":"155","author":[{"given":"Michael J.","family":"Parker","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charulata","family":"Deshpande","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Rankin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise C.","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meena","family":"Balasubramanian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine M.","family":"Hall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart E.","family":"Wagner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Pollitt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann","family":"Dalton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas J.","family":"Bishop","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,5,12]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.02.022"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20799"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-1805"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.7.433"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/383252"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.034"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.7.447"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI22760"},{"key":"e_1_2_5_10_1","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1172\/JCI25148","article-title":"Caffey disease: An unlikely collagenopathy","volume":"15","author":"Glorieux FH","year":"2005","journal-title":"J Clin Invest"},{"key":"e_1_2_5_11_1","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780195118612.001.0001","volume-title":"Syndromes of the head and neck","author":"Gorlin RJ","year":"2001"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.05.016"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20429"},{"key":"e_1_2_5_14_1","first-page":"1040","article-title":"A syndrome of intra\u2010uterine\u2010dwarfism recognizable at birth with craniofacial dysostosis, disproportionate short arms, and other anomalies (5 examples)","volume":"47","author":"Russell A","year":"1954","journal-title":"Proc R Soc Med"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002239900719"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.2.101"},{"key":"e_1_2_5_17_1","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1542\/peds.12.4.368","article-title":"Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins","volume":"12","author":"Silver HK","year":"1953","journal-title":"Pediatrics"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000198926.01706.33"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.09.001"}],"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.33998","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33998","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,6]],"date-time":"2024-04-06T18:12:15Z","timestamp":1712427135000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33998"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,5,12]]},"references-count":18,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2011,6]]}},"alternative-id":["10.1002\/ajmg.a.33998"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33998","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,5,12]]}}}