{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T09:57:26Z","timestamp":1780567046033,"version":"3.54.1"},"reference-count":36,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2023,11,10]],"date-time":"2023-11-10T00:00:00Z","timestamp":1699574400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Osteogenesis imperfecta (OI), also known as brittle bone disease, belongs to a rare heterogeneous group of inherited connective tissue disorders. In experienced prenatal centers, severe cases of OI can be suspected before birth from the first trimester prenatal ultrasound screening. In this article, we describe a case report of OI suspected at the 26th week of gestation and the patient\u2019s outcomes in infancy one year after birth, as well as compare our case to other prenatally or soon-after-birth suspected and\/or diagnosed OI clinical case reports in the literature. This case was managed by a multidisciplinary team. In this clinical case, OI was first suspected when prenatal ultrasound revealed asymmetric intrauterine growth restriction and skeletal dysplasia features. The diagnosis was confirmed after birth using COL1A1 gene variant detection via exome sequencing; the COL1A1 gene variant causes OI types I\u2013IV. The familial history was negative for both pregnancy-related risk factors and genetic diseases. At one year old, the patient\u2019s condition remains severe with bisphosphonate therapy.<\/jats:p>","DOI":"10.3390\/genes14112062","type":"journal-article","created":{"date-parts":[[2023,11,10]],"date-time":"2023-11-10T05:04:56Z","timestamp":1699592696000},"page":"2062","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A Sporadic Case of COL1A1 Osteogenesis Imperfecta: From Prenatal Diagnosis to Outcomes in Infancy\u2014Case Report and Literature Review"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-0217-0551","authenticated-orcid":false,"given":"Karolina","family":"Vankevi\u010dien\u0117","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Vilnius University, M. K. \u010ciurlionio Str. 21\/27, LT-03101 Vilnius, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Au\u0161ra","family":"Matulevi\u010dien\u0117","sequence":"additional","affiliation":[{"name":"Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Santariskiu Str. 2, LT-08661 Vilnius, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1033-0607","authenticated-orcid":false,"given":"Egl\u0117","family":"Mazgelyt\u0117","sequence":"additional","affiliation":[{"name":"Department of Physiology, Biochemistry, Microbiology and Laboratory Medicine, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, M. K. \u010ciurlionio Str. 21\/27, LT-03101 Vilnius, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginija","family":"Paliulyt\u0117","sequence":"additional","affiliation":[{"name":"Clinic of Obstetrics and Gynaecology, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, M. K. \u010ciurlionio Str. 21\/27, LT-03101 Vilnius, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramun\u0117","family":"Vankevi\u010dien\u0117","sequence":"additional","affiliation":[{"name":"Clinic of Children\u2019s Diseases, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, M. K. \u010ciurlionio Str. 21\/27, LT-03101 Vilnius, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Rama\u0161auskait\u0117","sequence":"additional","affiliation":[{"name":"Clinic of Obstetrics and Gynaecology, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, M. K. \u010ciurlionio Str. 21\/27, LT-03101 Vilnius, Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,11,10]]},"reference":[{"key":"ref_1","unstructured":"Behrman, R.E., Kliegman, R.M., and Jensen, R.M. (2004). Nelson Textbook of Pediatrics, Saunders."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1097\/MOP.0000000000000117","article-title":"Osteogenesis imperfecta due to mutations in non-collagenous genes: Lessons in the biology of bone formation","volume":"26","author":"Marini","year":"2014","journal-title":"Curr. Opin. Pediatr."},{"key":"ref_3","unstructured":"Marini, J.C., and Dang, A.N. (2023, September 02). Osteogenesis Imperfecta. Endotext. Updated 26 July 2020, Available online: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK279109\/."},{"key":"ref_4","unstructured":"(2023, September 02). Rare Disease Database. Osteogenesis Imperfecta. 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