{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T23:10:38Z","timestamp":1769728238582,"version":"3.49.0"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,11,2]],"date-time":"2004-11-02T00:00:00Z","timestamp":1099353600000},"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":[[2004,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The combination of the symptoms megalocornea, multiple skeletal anomalies, and developmental delay was first recognized as a separate entity by Frank et al. [<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib8\">1973<\/jats:ext-link>] and subsequently confirmed by ter Haar et al. [<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib14\">1982<\/jats:ext-link>]. The main characteristics are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones, and flexion deformity of the fingers. Protruding, simple ears, and prominent coccyx bone can be also regarded as important diagnostic signs. Inheritance most likely is autosomal recessive. Several manifestations such as progressive \u201ccoarsening\u201d of the face, hirsutism, gallstones, lingual papillomatosis, and cardiac valve anomalies all point to a possible metabolic basis of the disorder. Here we describe four patients, including three sibs of Turkish descent, with this entity. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30244","type":"journal-article","created":{"date-parts":[[2004,11,13]],"date-time":"2004-11-13T00:23:30Z","timestamp":1100305410000},"page":"127-133","source":"Crossref","is-referenced-by-count":43,"title":["Further delineation of Frank\u2013ter Haar syndrome"],"prefix":"10.1002","volume":"131A","author":[{"given":"Saskia M.","family":"Maas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hulya","family":"Kayserili","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Lam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Memnune Y.","family":"Apak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raoul C.M.","family":"Hennekam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,11,2]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200307000-00009"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.10.882"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01958963"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460225"},{"key":"e_1_2_4_6_1","first-page":"402","article-title":"A familial syndrome of multiple congenital defects","volume":"114","author":"Bowen P","year":"1964","journal-title":"Bull Johns Hopkins Hosp"},{"key":"e_1_2_4_7_1","first-page":"339","article-title":"Melnick\u2013Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity","volume":"41","author":"Dereymaker AM","year":"1986","journal-title":"Helv Paediat Acta"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441987"},{"key":"e_1_2_4_9_1","first-page":"67","article-title":"Megalocornea associated with multiple skeletal anomalies: A new genetic syndrome?","volume":"21","author":"Frank Y","year":"1973","journal-title":"J Genet Hum"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560320"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971128)73:1<67::AID-AJMG13>3.0.CO;2-P"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1119"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199604000-00002"},{"key":"e_1_2_4_14_1","first-page":"125","article-title":"Megalocornea and mental retardation syndrome (MMR): Delineation of a new entity (MMR\u20102)","volume":"49","author":"Temtamy SA","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320130418"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460206"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970613)70:3<267::AID-AJMG10>3.0.CO;2-J"}],"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.30244","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30244","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T11:40:34Z","timestamp":1697629234000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30244"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,11,2]]},"references-count":16,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,12]]}},"alternative-id":["10.1002\/ajmg.a.30244"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30244","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,11,2]]}}}