{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T12:54:23Z","timestamp":1775912063291,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2021,8,20]],"date-time":"2021-08-20T00:00:00Z","timestamp":1629417600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Osteopathia striata with cranial sclerosis (OSCS; OMIM# 300373) is a rare X\u2010linked disorder caused by mutations of the <jats:italic>AMER1<\/jats:italic> gene. OSCS is traditionally considered a skeletal dysplasia, characterized by cranial sclerosis and longitudinal striations in the long bone metaphyses. However, OSCS affects many body systems and varies significantly in phenotypic severity between individuals. This case series focuses on the phenotypic presentation and development of individuals with OSCS. We provide an account of 12 patients with OSCS, ranging from 5\u00a0months to 38\u2009years of age. These patients were diagnosed with OSCS after genetic testing confirmed pathogenic mutations in <jats:italic>AMER1<\/jats:italic>. Patient consent was obtained for photos and participation. Data were collected regarding perinatal history, dysmorphic features, and review of systems. This case series documents common facial dysmorphology, as well as rare extraskeletal features of OSCS, including two patients with intestinal malrotation and two patients with pyloric stenosis. We share four apparently nonmosaic males with OSCS (one de novo and three maternal variants). We also provide a clinical update on a patient who was previously published by Ch\u00e9nier et al. (2012). <jats:italic>American Journal of Medical Genetics Part A<\/jats:italic>, <jats:italic>158<\/jats:italic>, 2946\u20132952. More research is needed to investigate the links between genotype and phenotype and assess the long\u2010term comorbidities and overall quality of life of individuals with OSCS.<\/jats:p>","DOI":"10.1002\/ajmg.a.62452","type":"journal-article","created":{"date-parts":[[2021,8,20]],"date-time":"2021-08-20T08:41:40Z","timestamp":1629448900000},"page":"3793-3803","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["The phenotypic spectrum of <scp><i>AMER1<\/i><\/scp>\u2010related osteopathia striata with cranial sclerosis: The first Canadian cohort"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5238-4347","authenticated-orcid":false,"given":"David","family":"Heikoop","sequence":"first","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics London Health Sciences, Schulich School of Medicine, Western University  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren","family":"Brick","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics McMaster Children's Hospital, McMaster University  Hamilton Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1944-7294","authenticated-orcid":false,"given":"David","family":"Chitayat","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics Mount Sinai Hospital and University Health Network, University of Toronto  Toronto Ontario Canada"},{"name":"The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology Mount Sinai Hospital, University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samantha","family":"Colaiacovo","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics London Health Sciences, Schulich School of Medicine, Western University  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucie","family":"Dupuis","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics The Hospital for Sick Children, University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanna","family":"Faghfoury","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics Mount Sinai Hospital and University Health Network, University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharan","family":"Goobie","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics IWK Hospital, Dalhousie University  Halifax Nova Scotia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Mendoza","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics The Hospital for Sick Children, University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melanie","family":"Napier","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics London Health Sciences, Schulich School of Medicine, Western University  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret","family":"Nowaczyk","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics McMaster Children's Hospital, McMaster University  Hamilton Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rachel","family":"Oh","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics The Hospital for Sick Children, University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josh","family":"Silver","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics Mount Sinai Hospital and University Health Network, University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chitra","family":"Prasad","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics London Health Sciences, Schulich School of Medicine, Western University  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maha","family":"Saleh","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics, Department of Pediatrics London Health Sciences, Schulich School of Medicine, Western University  London Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,8,20]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-020-00718-4"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.5496\/wjmg.v4.i2.34"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35619"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35813"},{"key":"e_1_2_8_6_1","volume-title":"GeneReviews\u00ae","author":"Gear R.","year":"2021"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38261"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35716"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01905.x"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34178"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.270"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-2343"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.1999.14.1.152"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes11121439"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61366"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000116"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.090707"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1137509"},{"issue":"3","key":"e_1_2_8_19_1","first-page":"281","article-title":"Multiple malformations in a male and maternal osteopathia strata with cranial sclerosis (OSCS)","volume":"14","author":"Rott H. D.","year":"2003","journal-title":"Genet Couns"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-15-0159"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.diii.2019.04.001"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.12691\/ajmbr-1-1-6"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12253-016-0168-0"}],"updated-by":[{"DOI":"10.1002\/ajmg.a.62617","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2021,12,28]],"date-time":"2021-12-28T00:00:00Z","timestamp":1640649600000}}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62452","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62452","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62452","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T10:16:48Z","timestamp":1692958608000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62452"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,8,20]]},"references-count":22,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2021,12]]}},"alternative-id":["10.1002\/ajmg.a.62452"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62452","archive":["Portico"],"relation":{"correction":[{"id-type":"doi","id":"10.1002\/ajmg.a.62617","asserted-by":"object"}]},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,8,20]]},"assertion":[{"value":"2021-05-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-07-26","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-08-20","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}