{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:17:21Z","timestamp":1792167441396,"version":"4.4.0"},"reference-count":20,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2007,5,11]],"date-time":"2007-05-11T00:00:00Z","timestamp":1178841600000},"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":[[2007,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The previously undescribed combination of esophageal atresia, hypoplasia of the zygomatic complex, microcephaly, cup\u2010shaped ears, congenital heart defect, and mental retardation was diagnosed in two siblings of different sexes, with the brother being more severely affected. The mother presented with zygomatic arch hypoplasia of the right side only. We discuss major differential diagnoses: Goldenhar, Feingold, CHARGE, and Treacher Collins syndromes show a few overlapping clinical features, but these diagnoses are unlikely as the clinical findings are unusual for Goldenhar syndrome and mutational screening of the <jats:italic>MYCN<\/jats:italic>, the <jats:italic>CHD7<\/jats:italic>, and the <jats:italic>TCOF1<\/jats:italic> genes did not reveal any abnormalities. Autosomal recessive oto\u2013facial syndrome, hypomandibular faciocranial dysostosis, and Ozkan syndromes were clinically excluded. A microdeletion 22q11.2 was excluded by FISH analysis, a microdeletion 2p23\u2010p24 by microsatellite analyses, a subtelomeric chromosomal aberration by MLPA, and a small genomic deletion\/duplication by CGH array. As X\u2010inactivation studies did not show skewed X\u2010inactivation in the mother, we consider X\u2010chromosomal recessive inheritance of this condition less likely. We discuss autosomal dominant inheritance with variable expressivity or mosaicism in the mother as the likely genetic mechanism in this new multiple congenital anomaly\/mental retardation (MCA\/MR) syndrome. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31752","type":"journal-article","created":{"date-parts":[[2007,5,11]],"date-time":"2007-05-11T22:47:08Z","timestamp":1178923628000},"page":"1135-1142","source":"Crossref","is-referenced-by-count":20,"title":["Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup\u2010shaped ears, congenital heart defect, and mental retardation\u2014New MCA\/MR syndrome in two affected sibs and a mildly affected mother?"],"prefix":"10.1002","volume":"143A","author":[{"given":"Dagmar","family":"Wieczorek","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Shaw\u2010Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00fcrgen","family":"Kohlhase","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang","family":"Schmitt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin","family":"Buiting","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alison","family":"Coffey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleanor","family":"Howard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ute","family":"Hehr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriele","family":"Gillessen\u2010Kaesbach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,5,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201260"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0407979101"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9396"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/302779"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20471"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00049.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/302238"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470311"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30479"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1597\/05-032.1"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260215"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000382"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.038158"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.20376"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.04.015"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980413)76:5<402::AID-AJMG7>3.0.CO;2-O"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1546"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1407"},{"key":"e_1_2_6_20_1","first-page":"460","article-title":"Congenital esophageal atresia","volume":"22","author":"Vogt EG","year":"1929","journal-title":"Am J Roentgenol"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl064"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31752","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31752","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T12:09:18Z","timestamp":1700050158000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31752"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,5,11]]},"references-count":20,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2007,6]]}},"alternative-id":["10.1002\/ajmg.a.31752"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31752","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,5,11]]}}}