{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T04:07:18Z","timestamp":1790395638091,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,2,13]],"date-time":"2020-02-13T00:00:00Z","timestamp":1581552000000},"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":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Cerebro\u2010oculo\u2010facio\u2010skeletal syndrome (COFS) is a rare autosomal recessive neurodegenerative disease belonging to the family of DNA repair disorders, characterized by microcephaly, congenital cataracts, facial dysmorphism and arthrogryposis. Here, we describe the detailed morphological and microscopic phenotype of three fetuses from two families harboring <jats:italic>ERCC5\/XPG<\/jats:italic> likely pathogenic variants, and review the five previously reported fetal cases. In addition to the classical features of COFS, the fetuses display thymus hyperplasia, splenomegaly and increased hematopoiesis. Microencephaly is present in the three fetuses with delayed development of the gyri, but normal microscopic anatomy at the supratentorial level. Microscopic anomalies reminiscent of pontocerebellar hypoplasia are present at the infratentorial level. In conclusion, COFS syndrome should be considered in fetuses when intrauterine growth retardation is associated with microcephaly, arthrogryposis and ocular anomalies. Further studies are needed to better understand XPG functions during human development.<\/jats:p>","DOI":"10.1002\/ajmg.a.61520","type":"journal-article","created":{"date-parts":[[2020,2,13]],"date-time":"2020-02-13T12:16:27Z","timestamp":1581596187000},"page":"1236-1242","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Prenatal diagnosis of cerebro\u2010oculo\u2010facio\u2010skeletal syndrome: Report of three fetuses and review of the literature"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8599-5558","authenticated-orcid":false,"given":"Pauline","family":"Le Van Quyen","sequence":"first","affiliation":[{"name":"Unit\u00e9 de F\u0153topathologie, Service de Pathologie H\u00f4pitaux Universitaires de Strasbourg  Strasbourg 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Centre M\u00e9dico\u2010Chirurgical et Obst\u00e9trical (CMCO) H\u00f4pitaux Universitaires de Strasbourg  Schiltigheim Cedex France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania","family":"Atti\u00e9\u2010Bitach","sequence":"additional","affiliation":[{"name":"Unit\u00e9 d'Embryof\u0153topathologie Service d'Histologie\u2010Embryologie\u2010Cytog\u00e9n\u00e9tique, H\u00f4pital Necker\u2010Enfants Malades, AP\u2010HP  Paris Cedex 15 France"},{"name":"Inserm U1163, Institut Imagine Universit\u00e9 Paris Descartes  Paris Cedex 15 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Laugel","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale\u2014INSERM U1112 Institut de G\u00e9n\u00e9tique M\u00e9dicale d'Alsace (IGMA), Facult\u00e9 de M\u00e9decine, Universit\u00e9 de Strasbourg  Strasbourg France"},{"name":"Service de P\u00e9diatrie H\u00f4pitaux Universitaires de Strasbourg  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