{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T05:06:37Z","timestamp":1772168797372,"version":"3.50.1"},"update-to":[{"DOI":"10.12688\/f1000research.131094.1","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T00:00:00Z","timestamp":1698624000000}},{"DOI":"10.12688\/f1000research.131094.2","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T00:00:00Z","timestamp":1698624000000}}],"reference-count":21,"publisher":"F1000 Research Ltd","license":[{"start":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T00:00:00Z","timestamp":1698624000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["f1000research.com"],"crossmark-restriction":false},"short-container-title":["F1000Res"],"abstract":"<ns4:p>\n                    Osteogenesis imperfecta is considered a rare genetic condition which is characterized by bone fragility. In 85% of cases, it is caused by mutations in\n                    <ns4:italic>COL1A1<\/ns4:italic>\n                    and\n                    <ns4:italic>COL1A2<\/ns4:italic>\n                    genes which are essential to produce type I collagen. We report the case of a female neonate delivered to a 27-year-old women at San Bartolom\u00e9 Teaching Hospital with a family history of clavicle fracture. A prenatal control with ultrasound was performed to the mother at 29 weeks. A fetus with altered morphology and multiple fractures was found. Therefore, a prenatal diagnosis of osteogenesis imperfecta was performed. The neonate was born with a respiratory distress syndrome and an acyanotic congenital heart disease. Therefore, she remained in NICU until her death. We highlight the importance of prenatal diagnosis, genetic counseling and a multidisciplinary evaluation in this type of pathologies and report a new probably pathogenic variant in the\n                    <ns4:italic>COL1A2<\/ns4:italic>\n                    gene detected by exomic sequencing in amniotic fluid.\n                  <\/ns4:p>","DOI":"10.12688\/f1000research.131094.3","type":"journal-article","created":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T12:45:30Z","timestamp":1698669930000},"page":"603","update-policy":"https:\/\/doi.org\/10.12688\/f1000research.crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2"],"prefix":"10.12688","volume":"12","author":[{"given":"Melissa Sindy","family":"Pel\u00e1ez Chomba","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guillermo Ra\u00fal","family":"V\u00e1squez G\u00f3mez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasser Ciro","family":"Sullcahuaman Allende","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julio Cesar","family":"Mendoza Fern\u00e1ndez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nelson David","family":"Purizaca Rosillo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0268-2557","authenticated-orcid":false,"given":"Alejandra","family":"Zevallos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vicente Leandro","family":"Cruzate Cabrejos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2560","published-online":{"date-parts":[[2023,10,30]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"2393-2419","DOI":"10.1002\/ajmg.a.61366","article-title":"Nosology and classification of genetic skeletal disorders: 2019 revision.","volume":"179","author":"G Mortier","year":"2019 Dec","journal-title":"Am. 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