{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T21:18:34Z","timestamp":1792444714072,"version":"4.5.0"},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,5,22]],"date-time":"2014-05-22T00:00:00Z","timestamp":1400716800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,11]]},"abstract":"Several umbilical abnormalities have been linked to and utilized to aid in the clinical diagnosis of certain syndromes. For instance, umbilical skin redundancy has long been recognized as a core feature of Rieger syndrome although its association with other disorders is unknown. In this article, we report for the first time the occurrence of this distinct clinical sign in association with two other syndromes: Morquio syndrome and FKBP14<\/jats:italic>\u2010related Ehlers\u2013Danlos syndrome (EDS). Our observation is clinically significant because patients with Morquio syndrome are often diagnosed only after they develop typical skeletal manifestations, which reduces the efficacy of available enzyme replacement therapy, so the umbilical sign we report here can facilitate a much earlier diagnosis. In addition, the extreme rarity of FKBP14<\/jats:italic>\u2010related Ehlers\u2013Danlos syndrome (EDS) can greatly delay the diagnosis of this condition unless it is recognized in the differential diagnosis of redundant umbilical skin as we argue in this report.<\/jats:p>","DOI":"10.1111\/cge.12414","type":"journal-article","created":{"date-parts":[[2014,4,28]],"date-time":"2014-04-28T17:22:42Z","timestamp":1398705762000},"page":"469-472","source":"Crossref","is-referenced-by-count":14,"title":["Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14<\/scp><\/i>\u2010related Ehlers\u2013Danlos syndrome"],"prefix":"10.1111","volume":"86","author":[{"given":"A.A.","family":"Aldeeri","sequence":"first","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.M.","family":"Alazami","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Hijazi","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Alzahrani","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.S.","family":"Alkuraya","sequence":"additional","affiliation":[{"name":"Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"},{"name":"Department of Anatomy and Cell Biology, College of Medicine Alfaisal University Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,5,22]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00408.x"},{"key":"e_1_2_5_3_1","volume-title":"Embryology, anatomy, and diseases of the umbilicus: together with diseases of the urachus","author":"Cullen TS","year":"1916"},{"key":"e_1_2_5_4_1","volume-title":"Diagnostic dysmorphology","author":"Aase JM","year":"1990"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20257"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.004"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1994.tb04152.x"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320020310"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/0009922806289623"},{"key":"e_1_2_5_10_1","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1542\/peds.90.1.47","article-title":"Umbilical morphology: normal values for neonatal periumbilical skin length","volume":"90","author":"O'Marcaigh AS","year":"1992","journal-title":"Pediatrics"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1995.tb03960.x"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799267"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.2174\/138920111795542615"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.11.015"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198005000-00008"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12414","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12414","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T14:33:15Z","timestamp":1694442795000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12414"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5,22]]},"references-count":14,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2014,11]]}},"alternative-id":["10.1111\/cge.12414"],"URL":"https:\/\/doi.org\/10.1111\/cge.12414","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,5,22]]}}}