{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T01:56:32Z","timestamp":1790042192487,"version":"4.0.1"},"reference-count":23,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1991,10]]},"abstract":"<jats:p>We describe a three generation family with three females showing minor features of orofaciodigital syndrome type I and a severely affected male in the third generation. In addition to the classical features of OFD I, the male had bilateral duplication of the halluces, a feature diagnostic of OFD II, and an atrioventricular septal defect. Heart defects have not previously been reported in OFD I but have been reported in OFD II. It is important to examine the mothers of all male neonates with orofaciodigital syndrome with care before making a diagnosis of OFD II.<\/jats:p>","DOI":"10.1136\/jmg.28.10.691","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"691-694","source":"Crossref","is-referenced-by-count":20,"title":["A male with type I orofaciodigital syndrome."],"prefix":"10.1136","volume":"28","author":[{"given":"J","family":"Goodship","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Platt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Burn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1991,10,1]]},"reference":[{"key":"ref_1","first-page":"209","article-title":"Une malformation hereditaire de la muqueuse buccale, brides et freins anormaux: generalites","volume":"55","author":"Papillon-Leage, M.; Psaume, J.","year":"1954","unstructured":"Papillon-Leage M, Psaume J. 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