{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T23:03:46Z","timestamp":1773961426828,"version":"3.50.1"},"reference-count":30,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2013,11,29]],"date-time":"2013-11-29T00:00:00Z","timestamp":1385683200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>Treacher Collins syndrome is the most common mandibulofacial dysostosis of autosomal dominant or, rarely, recessive inheritance. Affected fetuses may be identified by prenatal ultrasound or diagnosed at autopsy in case of perinatal death or pregnancy termination.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS<\/jats:title><jats:p>We describe the ultrasonographic, autopsy, and molecular findings in a 25\u2010week\u2010gestation affected fetus, and review the clinical, prenatal, and postmortem findings in 15 previously reported fetal and perinatal cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>A nearly complete spectrum of the typical facial characteristics can be present by the early second trimester of gestation, including subtle defects such as lower eyelid colobomas. Mandibular hypoplasia and bilateral auricle defects were constant findings in the affected fetal population. Downslanting palpebral fissures were the second more common feature, followed by midface hypoplasia, polyhydramnios, and ocular defects. Association with Pierre Robin sequence was common (38%) in the reviewed series. Previously unreported <jats:italic>pectus carinatum<\/jats:italic> was noted in our case bearing a heterozygous <jats:italic>TCOF1<\/jats:italic> mutation. Other unique reported findings include salivary gland hyperplasia, single umbilical artery, and tracheo\u2010esophageal fistula, all in molecularly unconfirmed cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSION<\/jats:title><jats:p>Treacher Collins syndrome can be prenatally detected by ultrasound and should be included in the wide range of genetic syndromes that can be diagnosed at perinatal autopsy. Affected fetuses tend to have a more severe phenotype than living patients. The reported association of Treacher Collins syndrome type 1 with <jats:italic>pectus carinatum<\/jats:italic> expands the phenotype, provides information on genotype\u2013phenotype correlation, and suggests possible pathogenetic interactions between neural crest cell disorders and the formation of the sternum that merit investigation. <jats:italic>Birth Defects Research (Part A), 97:774\u2013780, 2013<\/jats:italic>. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23202","type":"journal-article","created":{"date-parts":[[2013,11,29]],"date-time":"2013-11-29T05:54:56Z","timestamp":1385704496000},"page":"774-780","source":"Crossref","is-referenced-by-count":9,"title":["Mandibulofacial dysostosis (Treacher\u2010Collins syndrome) in the fetus: Novel association with <i>pectus carinatum<\/i> in a molecularly confirmed case and review of the fetal phenotype"],"prefix":"10.1002","volume":"97","author":[{"given":"Anastasia E.","family":"Konstantinidou","sequence":"first","affiliation":[{"name":"1st Department of Pathology School of Medicine University of Athens Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jason","family":"Tasoulas","sequence":"additional","affiliation":[{"name":"School of Dentistry University of Athens Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgios","family":"Kallipolitis","sequence":"additional","affiliation":[{"name":"1st Department of Obstetrics and Gynecology University of Athens, Alexandra Hospital Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Spyros","family":"Gasparatos","sequence":"additional","affiliation":[{"name":"School of Dentistry University of Athens Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Voula","family":"Velissariou","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Biology General, Maternity, and Pediatric Clinic Mitera Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helen","family":"Paraskevakou","sequence":"additional","affiliation":[{"name":"1st Department of Pathology School of Medicine University of Athens Athens Greece"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,11,29]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"13","article-title":"Prenatal mandibulofacial dysostosis (Treacher Collins Syndrome)","volume":"226","author":"Behrents RG","year":"1977","journal-title":"J Cleft Palate"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.2"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-994511"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250209"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.724"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-6343.2007.00388.x"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.7.603"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2005.10.016"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101173"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.2002.00533_1.x"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2011.09.021"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90118-X"},{"key":"e_1_2_4_14_1","first-page":"250","volume-title":"Smith's Recognizable Patterns of Human Malformation","author":"Jones KL","year":"1997"},{"key":"e_1_2_4_15_1","volume-title":"GeneReviews [Internet]","author":"Katsanis SH","year":"1993"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcu.1870190213"},{"key":"e_1_2_4_17_1","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1093\/milmed\/159.3.250","article-title":"Recurrence of Treacher Collins' syndrome with sonographic findings","volume":"159","author":"Milligan DA","year":"1994","journal-title":"Mil Med"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970040307"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0029-7844(97)00676-5"},{"key":"e_1_2_4_20_1","volume-title":"Treacher Collins Syndrome 1; 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