{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T04:37:13Z","timestamp":1774672633200,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,1,17]],"date-time":"2018-01-17T00:00:00Z","timestamp":1516147200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Raine syndrome is a rare osteosclerotic bone dysplasia characterized by craniofacial anomalies and intracranial calcification. Most patients with Raine syndrome are of Arab ancestry and die during the neonatal period. We herein report a Japanese patient with non\u2010lethal Raine syndrome who presented with characteristic cerebral hyperechogenicity and a hypoplastic nose by fetal ultrasonography. She was admitted to the NICU due to pyriform aperture stenosis. Craniofacial abnormalities, intracranial calcification, osteosclerosis, chondrodysplasia punctata, and a mutation of <jats:italic>FAM20C<\/jats:italic> was identified. She was subsequently discharged without surgical intervention and is now 2 years old with mild neurodevelopmental delays. Images of cerebral hyperechogenicity by fetal ultrasonography in a non\u2010lethal case were described herein for the first time. This patient represents a rare occurrence of a child with Raine syndrome born to Japanese parents and confirms that this syndrome is not always lethal. Even if Raine syndrome is suspected in a fetus due to cerebral hyperechogenicity and a hypoplastic nose, cerebral hyperechogenicity without pulmonary hypoplasia does not always predict lethality or severe neurodevelopmental delays. The information provided herein will be useful for prenatal counseling.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38598","type":"journal-article","created":{"date-parts":[[2018,1,17]],"date-time":"2018-01-17T13:58:41Z","timestamp":1516197521000},"page":"682-686","source":"Crossref","is-referenced-by-count":19,"title":["Fetal ultrasonographic findings including cerebral hyperechogenicity in a patient with non\u2010lethal form of Raine syndrome"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3343-1590","authenticated-orcid":false,"given":"Kei","family":"Tamai","sequence":"first","affiliation":[{"name":"Department of Neonatology NHO Okayama Medical Center Okayama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katsuhiko","family":"Tada","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology NHO Okayama Medical Center Okayama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akihito","family":"Takeuchi","sequence":"additional","affiliation":[{"name":"Department of Neonatology NHO Okayama Medical Center Okayama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makoto","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Neonatology NHO Okayama Medical Center Okayama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidenori","family":"Marunaka","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology NHO Okayama Medical Center Okayama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yosuke","family":"Washio","sequence":"additional","affiliation":[{"name":"Department of Pediatrics  Okayama University Hospital Okayama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Tanaka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Okayama Saiseikai General Hospital Okayama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fuyuki","family":"Miya","sequence":"additional","affiliation":[{"name":"Department of Medical Science Mathematics Medical Research Institute Tokyo Medical and Dental University Tokyo Japan"},{"name":"Laboratory for Medical Science Mathematics RIKEN Center for Integrative Medical Sciences Yokohama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5415-656X","authenticated-orcid":false,"given":"Nobuhiko","family":"Okamoto","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Osaka Women's and Children's Hospital Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Misao","family":"Kageyama","sequence":"additional","affiliation":[{"name":"Department of Neonatology NHO Okayama Medical Center Okayama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,1,17]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-015-0154-5"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050473"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32022"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2016.09.018"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.07.001"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01516.x"},{"key":"e_1_2_6_8_1","first-page":"723","article-title":"Raine syndrome","volume":"89","author":"Gaigi S. 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