{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T01:40:45Z","timestamp":1791855645116,"version":"4.3.4"},"reference-count":3,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1992,4]]},"abstract":"<jats:p>We report three new isolated cases of orocraniodigital syndrome (Juberg-Hayward syndrome). The main clinical features of this unusual birth defect (six patients from three families described so far) are cleft lip\/palate, hypertelorism, bowed and upward slanting eyebrows, thumb hypo\/aplasia or proximal\/distal thumb displacement, luxation of the radial head, elbow restriction, minor vertebral and rib anomalies, and horseshoe kidneys. New features observed in our patients are severe mental impairment (not correlated with the severity of the malformations), anterior anal displacement, and ptosis. Recessive inheritance is likely, but autosomal dominant inheritance cannot yet be totally ruled out; therefore, genetic counselling of parents of an affected child and of affected patients themselves must be cautious.<\/jats:p>","DOI":"10.1136\/jmg.29.4.262","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"262-265","source":"Crossref","is-referenced-by-count":21,"title":["The orocraniodigital syndrome of Juberg and Hayward."],"prefix":"10.1136","volume":"29","author":[{"given":"A","family":"Verloes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Le Merrer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J C","family":"Davin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Wittamer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Abrassart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Bricteux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M L","family":"Briard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1992,4,1]]},"reference":[{"issue":"74","key":"ref_1","first-page":"755","article-title":"A new familial syndrome of oral, cranial and digital anomalies","volume":"1969","author":"Juberg, R.C.; Hayward, JR","unstructured":"Juberg RC, Hayward JR. A new familial syndrome of oral, cranial and digital anomalies. Pediatr 1969;74:755-62.","journal-title":"Pediatr"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1136\/jmg.18.6.478","article-title":"A case of the orocraniodigital (Juberg-Hayward) syndrome","volume":"18","author":"Nevin, N.C.; Henry, P.; Thomas, P.T.S.","year":"1981","unstructured":"Nevin NC, Henry P, Thomas PTS. A case of the orocraniodigital (Juberg-Hayward) syndrome. Med Genet 1981; 18:478-80.","journal-title":"Med Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1136\/adc.57.10.790","article-title":"Orocraniodigital (Juberg-Hayward) syndrome with growth hormone deficiency","volume":"57","author":"Kingston, H.M.; Hughes, I.A.; Harper, P.S.","year":"1982","unstructured":"Kingston HM, Hughes IA, Harper PS. Orocraniodigital (Juberg-Hayward) syndrome with growth hormone deficiency. Arch Dis Child 1982;57:790-1.","journal-title":"Arch Dis Child"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.29.4.262","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:01:02Z","timestamp":1760738462000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.29.4.262"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,4]]},"references-count":3,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1992,4,1]]},"published-print":{"date-parts":[[1992,4]]}},"alternative-id":["10.1136\/jmg.29.4.262"],"URL":"https:\/\/doi.org\/10.1136\/jmg.29.4.262","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,4]]}}}