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Some refer to them collectively as RECQL4 syndromes. Most cases have been reported during infancy and childhood periods. However, there have been no reports of phenotypes resulting in a lethal course in the perinatal period. We identified two fetuses with biallelic <jats:italic>RECQL4<\/jats:italic> pathogenic variants during the perinatal period. The two fetuses with RECQL4 syndrome showed structural abnormalities, including severely hypoplastic forearms and lower legs. One fetus also had severe pulmonary hypoplasia. One case resulted in neonatal death because of respiratory failure, and the other was artificially terminated during pregnancy. The <jats:italic>RECQL4<\/jats:italic> pathogenic variants were identified by exome sequencing followed by Sanger sequencing. The biallelic <jats:italic>RECQL4<\/jats:italic> pathogenic variants can induce a lethal skeletal disorder.<\/jats:p>","DOI":"10.1002\/ajmg.a.63884","type":"journal-article","created":{"date-parts":[[2024,9,26]],"date-time":"2024-09-26T10:33:14Z","timestamp":1727346794000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Severe Phenotype With <scp>RECQL4<\/scp> Syndrome: A Report of Two Cases"],"prefix":"10.1002","volume":"197","author":[{"given":"Yu","family":"Kanai","sequence":"first","affiliation":[{"name":"Department of Child Health Institute of Medicine, University of Tsukuba  Tsukuba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1652-9438","authenticated-orcid":false,"given":"Hironori","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Jichi Medical University  Shimotsuke Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fuyuki","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics National Center for Child Health and Development  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asuka","family":"Hori","sequence":"additional","affiliation":[{"name":"Department of Maternal\u2010Fetal Biology National Research Institute for Child Health and Development  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hisato","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Child Health Institute of Medicine, University of Tsukuba  Tsukuba Japan"},{"name":"Center for Medical Genetics Keio University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shoko","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Tsukuba Hospital  Tsukuba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1290-3501","authenticated-orcid":false,"given":"Hiroko","family":"Fukushima","sequence":"additional","affiliation":[{"name":"Department of Child Health Institute of Medicine, University of Tsukuba  Tsukuba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hidetoshi","family":"Takada","sequence":"additional","affiliation":[{"name":"Department of Child Health Institute of Medicine, University of Tsukuba  Tsukuba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Horie","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Jichi Medical University  Shimotsuke Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katsunori","family":"Ozawa","sequence":"additional","affiliation":[{"name":"Department of Maternal\u2010Fetal Neonatal and Reproductive Medicine, National Center for Child Health and Development  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rieko","family":"Furukawa","sequence":"additional","affiliation":[{"name":"Department of Radiology Jichi Medical University  Shimotsuke Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenjiro","family":"Kosaki","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Keio University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenichiro","family":"Hata","sequence":"additional","affiliation":[{"name":"Department of Maternal\u2010Fetal Biology National Research Institute for Child Health and Development  Tokyo Japan"},{"name":"Department of Molecular Biology Gunma University  Maebashi Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,9,26]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.4238\/2015.May.11.8"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2019.00210"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1474-9726.2012.00803.x"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.91"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M801928200"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.295063"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096\u20109926(199907)60:1<37::AID\u2010TERA10>3.0.CO;2\u2010R"},{"volume-title":"Smith's Recognizable Patterns of Human Malformation","year":"2021","author":"Jones K. 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