{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T12:19:45Z","timestamp":1767874785300,"version":"3.49.0"},"reference-count":10,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T00:00:00Z","timestamp":1767830400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Life"],"abstract":"<jats:p>Peters-Plus syndrome is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the B3GLCT gene and characterized by multisystem involvement. Fewer than 100 cases have been reported to date, and only a limited number have been diagnosed prenatally. Prenatal identification is challenging due to the variable and non-specific nature of fetal findings and the frequent absence of detectable ocular anomalies during routine ultrasound. We report a prenatal diagnosis of Peters-Plus syndrome in a monochorionic diamniotic twin pregnancy, based on the progressive identification of early-onset intrauterine growth restriction, rhizomelic limb shortening, craniofacial dysmorphism, and mild central nervous system abnormalities. Standard cytogenetic and chromosomal microarray analyses were normal, prompting extended genetic testing. Prenatal exome sequencing identified a homozygous pathogenic splice-site variant (c.660+1G&gt;A) in B3GLCT in both fetuses, confirming the diagnosis. This case highlights the importance of recognizing suggestive multisystem prenatal findings and the crucial role of advanced genetic testing in achieving an accurate prenatal diagnosis. Early molecular confirmation enables appropriate parental counseling regarding prognosis, recurrence risk, and future reproductive options.<\/jats:p>","DOI":"10.3390\/life16010092","type":"journal-article","created":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T10:10:50Z","timestamp":1767867050000},"page":"92","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal Diagnosis of Peters-Plus Syndrome: A Case Report"],"prefix":"10.3390","volume":"16","author":[{"given":"Marina","family":"Fort\u00fan Agud","sequence":"first","affiliation":[{"name":"Obstetrics and Gynecology Department, Hospital Materno-Infantil, Hospital Regional Universitario Malaga, Avenida Arroyo de los Angeles S\/N, 29011 Malaga, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-7866-4706","authenticated-orcid":false,"given":"Susana","family":"Mon\u00eds Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Department, Hospital Materno-Infantil, Hospital Regional Universitario Malaga, Avenida Arroyo de los Angeles S\/N, 29011 Malaga, Spain"},{"name":"Research Group in Maternal-Foetal Medicine Epigenetics Women\u2019s Diseases and Reproductive Health, Biomedical Research Institute of Malaga (IBIMA), 29010 Malaga, Spain"},{"name":"Department of Surgical Specialties, Biochemistry and Immunology, University of Malaga, 29010 Malaga, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9148-9881","authenticated-orcid":false,"given":"Isidoro","family":"Narbona Arias","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Department, Hospital Materno-Infantil, Hospital Regional Universitario Malaga, Avenida Arroyo de los Angeles S\/N, 29011 Malaga, Spain"},{"name":"Research Group in Maternal-Foetal Medicine Epigenetics Women\u2019s Diseases and Reproductive Health, Biomedical Research Institute of Malaga (IBIMA), 29010 Malaga, Spain"},{"name":"Department of Surgical Specialties, Biochemistry and Immunology, University of Malaga, 29010 Malaga, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Ram\u00f3n","family":"And\u00e9rica Herrero","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Department, Hospital Materno-Infantil, Hospital Regional Universitario Malaga, Avenida Arroyo de los Angeles S\/N, 29011 Malaga, Spain"},{"name":"Research Group in Maternal-Foetal Medicine Epigenetics Women\u2019s Diseases and Reproductive Health, Biomedical Research Institute of Malaga (IBIMA), 29010 Malaga, Spain"},{"name":"Department of Surgical Specialties, Biochemistry and Immunology, University of Malaga, 29010 Malaga, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"G\u00f3mez Mu\u00f1oz","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Department, Hospital Materno-Infantil, Hospital Regional Universitario Malaga, Avenida Arroyo de los Angeles S\/N, 29011 Malaga, Spain"},{"name":"Research Group in Maternal-Foetal Medicine Epigenetics Women\u2019s Diseases and Reproductive Health, Biomedical Research Institute of Malaga (IBIMA), 29010 Malaga, Spain"},{"name":"Department of Surgical Specialties, Biochemistry and Immunology, University of Malaga, 29010 Malaga, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1199-5459","authenticated-orcid":false,"given":"Marta","family":"Blasco Alonso","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Department, Hospital Materno-Infantil, Hospital Regional Universitario Malaga, Avenida Arroyo de los Angeles S\/N, 29011 Malaga, Spain"},{"name":"Research Group in Maternal-Foetal Medicine Epigenetics Women\u2019s Diseases and Reproductive Health, Biomedical Research Institute of Malaga (IBIMA), 29010 Malaga, Spain"},{"name":"Department of Surgical Specialties, Biochemistry and Immunology, University of Malaga, 29010 Malaga, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7286-8656","authenticated-orcid":false,"given":"Jes\u00fas S.","family":"Jim\u00e9nez L\u00f3pez","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology Department, Hospital Materno-Infantil, Hospital Regional Universitario Malaga, Avenida Arroyo de los Angeles S\/N, 29011 Malaga, Spain"},{"name":"Research Group in Maternal-Foetal Medicine Epigenetics Women\u2019s Diseases and Reproductive Health, Biomedical Research Institute of Malaga (IBIMA), 29010 Malaga, Spain"},{"name":"Department of Surgical Specialties, Biochemistry and Immunology, University of Malaga, 29010 Malaga, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,1,8]]},"reference":[{"key":"ref_1","unstructured":"Oberstein, S.A.L., Ruivenkamp, C.A., and Hennekam, R.C. 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Peters Anomaly, StatPearls, Available online: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK580540\/."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1007\/s12098-008-0122-6","article-title":"Peters plus syndrome","volume":"75","author":"Kapoor","year":"2008","journal-title":"Indian J. Pediatr."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"100843","DOI":"10.1016\/j.jbc.2021.100843","article-title":"Peters plus syndrome mutations affect function and stability of human \u03b21,3-glucosyltransferase","volume":"297","author":"Zhang","year":"2021","journal-title":"J. Biol. Chem."}],"container-title":["Life"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-1729\/16\/1\/92\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T10:22:57Z","timestamp":1767867777000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-1729\/16\/1\/92"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,8]]},"references-count":10,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,1]]}},"alternative-id":["life16010092"],"URL":"https:\/\/doi.org\/10.3390\/life16010092","relation":{},"ISSN":["2075-1729"],"issn-type":[{"value":"2075-1729","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,8]]}}}