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The calcifications were evident specifically around the corpus callosum and\/or ventricular walls. Ectopic renal and hepatic calcifications, pulmonary hypoplasia, mild rhizomelic shortening of the upper limbs, intrauterine fractures, and cerebellar hypoplasia were also noted. Molecular analysis identified three novel homozygous variants, two frameshift: [c.456delC (p.Gly153Alafs*34)] in exon 1 and [c.905delT (Phe302Serfs*35)] in exon 4 and one nonsense mutation in exon 10, [c.1557C&gt;G(p.Tyrs519*)]. The three variants were segregated with the phenotype. This is the first description of a phenotype associated with homozygous truncating variants of<jats:italic>FAM20C.<\/jats:italic><\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>RS has characteristic prenatal ultrasound findings which can improve the prenatal identification of this condition and help in guiding the molecular diagnosis and counseling.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.5818","type":"journal-article","created":{"date-parts":[[2020,8,25]],"date-time":"2020-08-25T01:57:02Z","timestamp":1598320622000},"page":"1578-1597","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification"],"prefix":"10.1002","volume":"40","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7572-9128","authenticated-orcid":false,"given":"Sara H.","family":"El\u2010Dessouky","sequence":"first","affiliation":[{"name":"Department of Prenatal Diagnosis &amp; Fetal Medicine, Division of Human Genetics and Genome Research National Research Centre Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed S.","family":"Abdel\u2010Hamid","sequence":"additional","affiliation":[{"name":"Department of Medical &amp; Molecular Genetics, Division of Human Genetics and Genome Research National Research Centre Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sherif F.","family":"Abdel\u2010Ghafar","sequence":"additional","affiliation":[{"name":"Department of Medical &amp; Molecular Genetics, Division of Human Genetics and Genome Research National Research Centre Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona M.","family":"Aboulghar","sequence":"additional","affiliation":[{"name":"Fetal Medicine Unit, Cairo University Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hassan M.","family":"Gaafar","sequence":"additional","affiliation":[{"name":"Fetal Medicine Unit, Cairo University Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona","family":"Fouad","sequence":"additional","affiliation":[{"name":"Fetal Medicine Unit, Cairo University Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adel H.","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Fetal Medicine Unit, Cairo University Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghada M. 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