{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T21:52:25Z","timestamp":1776462745591,"version":"3.51.2"},"reference-count":59,"publisher":"MDPI AG","issue":"14","license":[{"start":{"date-parts":[[2024,7,10]],"date-time":"2024-07-10T00:00:00Z","timestamp":1720569600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Carol Davila University of Medicine and Pharmacy"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Apert syndrome is an inherited condition with autosomal dominant transmission. It is also known as acrocephalosyndactyly type I, being characterized by a syndrome of craniosynostosis with abnormal head shape, facial anomalies (median hypoplasia), and limb deformities (syndactyly, rhizomelic shortening). The association can suspect the prenatal diagnosis of these types of anomalies. The methodology consisted of revising the literature, by searching the PubMed\/Medline database in which 27 articles were selected and analyzed, comprising 32 cases regarding the prenatal diagnosis of Apert syndrome. A series of ultrasound parameters, the anatomopathological abnormalities found, the obstetric results, and the genetic tests were followed. The distribution of imaging results (US, MRI) identified in the analyzed cases was as follows: skull-shaped abnormalities were evident in 96.8% of cases, facial abnormalities (hypertelorism 43.7%, midface hypoplasia 25%, proptosis 21.8%), syndactyly in 87.5%, and cardiovascular abnormalities in 9.3%. The anomalies detected by the ultrasound examination of the fetus were confirmed postnatally by clinical or gross evaluation or imaging. The management of these cases requires an early diagnosis, an evaluation of the severity of the cases, and appropriate parental counseling.<\/jats:p>","DOI":"10.3390\/diagnostics14141480","type":"journal-article","created":{"date-parts":[[2024,7,10]],"date-time":"2024-07-10T15:22:05Z","timestamp":1720624925000},"page":"1480","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Emphasis on Early Prenatal Diagnosis and Perinatal Outcomes Analysis of Apert Syndrome"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8342-9819","authenticated-orcid":false,"given":"Valentin Nicolae","family":"Varlas","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, Filantropia Clinical Hospital, 011132 Bucharest, Romania"},{"name":"Faculty of Dentistry, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 010221 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dragos","family":"Epistatu","sequence":"additional","affiliation":[{"name":"Department of Radiology, Faculty of Dentistry, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 17-21 Calea Plevnei Street, 020021 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roxana Georgiana","family":"Varlas","sequence":"additional","affiliation":[{"name":"Doctoral School, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020021 Bucharest, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,7,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1006\/mgme.1999.2915","article-title":"Craniosynostosis Syndromes: From Genes to Premature Fusion of Skull Bones","volume":"68","author":"Hehr","year":"1999","journal-title":"Mol. 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