{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T11:45:26Z","timestamp":1790250326901,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,7,2]],"date-time":"2016-07-02T00:00:00Z","timestamp":1467417600000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2016,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Roberts syndrome and SC phocomelia syndrome are rare autosomal recessive genetic disorders representing the extremes of the spectrum of severity of the same condition, caused by mutations in <jats:italic>ESCO2<\/jats:italic> gene. We report three new patients with Roberts syndrome from three unrelated consanguineous Egyptian families. All patients presented with growth retardation, mesomelic shortening of the limbs more in the upper than in the lower limbs and microcephaly. Patients were subjected to clinical, cytogenetic and radiologic examinations. Cytogenetic analysis showed the characteristic premature separation of centromeres and puffing of heterochromatic regions. Further, sequencing of the <jats:italic>ESCO2<\/jats:italic> gene identified a novel mutation c.244_245dupCT (p.T83Pfs*20) in one family besides two previously reported mutations c.760_761insA (p.T254Nfs*27) and c.764_765delTT (p.F255Cfs*25). All mutations were in homozygous state, in exon 3. The severity of the mesomelic shortening of the limbs and craniofacial anomalies showed variability among patients. Interestingly, patient 1 had abnormal skin hypopigmentation. Serial fetal ultrasound examinations and measurements of long bones diagnosed two affected fetuses in two of the studied families. A literature review and case comparison was performed. In conclusion, we report a novel <jats:italic>ESCO2<\/jats:italic> mutation and expand the clinical spectrum of Roberts syndrome.<\/jats:p>","DOI":"10.1111\/cga.12151","type":"journal-article","created":{"date-parts":[[2015,12,29]],"date-time":"2015-12-29T12:06:37Z","timestamp":1451390797000},"page":"154-162","source":"Crossref","is-referenced-by-count":17,"title":["Expanding the mutation and clinical spectrum of Roberts syndrome"],"prefix":"10.1111","volume":"56","author":[{"given":"Hanan H.","family":"Afifi","sequence":"first","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Division National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghada M.H.","family":"Abdel\u2010Salam","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Division National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha M.","family":"Eid","sequence":"additional","affiliation":[{"name":"Human Cytogenetics Department, Human Genetics and Genome Research Division National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angie M.S.","family":"Tosson","sequence":"additional","affiliation":[{"name":"Pediatrics Department, Faculty of Medicine Cairo University  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wafaa Gh.","family":"Shousha","sequence":"additional","affiliation":[{"name":"Chemistry Department, Biochemistry Unit, Faculty of Science Helwan University  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amira A.","family":"Abdel Azeem","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics Department Research Institute of Ophthalmology  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona K.","family":"Farag","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Division National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mennat I.","family":"Mehrez","sequence":"additional","affiliation":[{"name":"Orodental Genetics Department, Oral and Dental Research Division National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khaled R.","family":"Gaber","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Division National Research Centre  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,7,2]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1375\/twin.10.4.655"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2214.1997.838838.x"},{"key":"e_1_2_7_4_1","first-page":"457","article-title":"The Roberts syndrome: a case report of an infant with valvular aortic stenosis and mutation in ESCO2","volume":"64","author":"Dogan M","year":"2014","journal-title":"J Pak Med Assoc"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00404-011-1910-1"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33261"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn116"},{"key":"e_1_2_7_8_1","first-page":"81","article-title":"A familial dysmorphogenetic syndrome of limb deformities, characteristic facial appearance and associated anomalies: The \u201cpseudothalidomide\u201d or \u201cSC\u2010syndrome.\u201d","volume":"5","author":"Herrmann J","year":"1969","journal-title":"Birth defects: Original article series"},{"key":"e_1_2_7_9_1","unstructured":"LOVD ECSO2 homepage\u2010Variant listing.2015. Web URL:http:\/\/chromium.liacs.nl\/LOVD2\/variants.php?select_db=ESCO2&action=view_all. Last accessed at 10 September 2015."},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/431328"},{"key":"e_1_2_7_11_1","unstructured":"OMIM (Online Mendelian Inheritance in Man).2015.McKusick\u2010Nathans Institute for Genetic Medicine John Hopkins University (Baltimore MD) and National Center for Biotechnology Information National Library of Medicine (Bethesda MD). World Wide Web URL:http:\/\/www.ncbi.nlm.nih.gov\/omim\/. Last accessed 10 September 2015."},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240410"},{"key":"e_1_2_7_13_1","first-page":"252","article-title":"A child with double cleft of lip and palate, protrusion of the intermaxillary portion of the upper jaw and imperfect development of the bones of the four extremities","volume":"70","author":"Roberts JB","year":"1919","journal-title":"Ann Surg"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/498695"},{"key":"e_1_2_7_15_1","first-page":"1","article-title":"Roberts syndrome: study of 4 new Egyptian cases with comparison of clinical and cytogenetic findings","volume":"17","author":"Temtamy SA","year":"2006","journal-title":"Genet Couns"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320040104"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470735"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.068395"},{"key":"e_1_2_7_19_1","first-page":"267","article-title":"Skeletal dysplasias: 38 prenatal cases","volume":"19","author":"Witters I","year":"2008","journal-title":"Genet Couns"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcga.12151","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.12151","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T02:19:05Z","timestamp":1696299545000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cga.12151"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,7]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2016,7]]}},"alternative-id":["10.1111\/cga.12151"],"URL":"https:\/\/doi.org\/10.1111\/cga.12151","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"value":"0914-3505","type":"print"},{"value":"1741-4520","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,7]]}}}