{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:07:49Z","timestamp":1792166869910,"version":"4.4.0"},"reference-count":10,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,4]]},"abstract":"<jats:p>We report a girl with oral, facial, and digital anomalies including multiple alveolar frenula, lobulated tongue with nodules, a posterior cleft palate, hypertelorism, a prominent forehead with a large anterior fontanelle, and postaxial polydactyly in both hands and the right foot, features compatible with the oral-facial-digital syndrome (OFDS). In addition, she had bilateral microphthalmia, optic disc coloboma, and retinal degeneration with partial detachment, thus establishing a diagnosis of OFDS type IX. Dandy-Walker malformation and retrobulbar cysts were observed on MRI. These additional malformations have not been reported in OFDS type IX. The frequent apnoeic spells which occurred immediately after birth were relieved after cystoperitoneal shunt implantation for hydrocephalus. Considering our case and previous reports of OFDS type IX, including two male sibs, a boy born to consanguineous parents, and three females, inheritance is probably autosomal recessive.<\/jats:p>","DOI":"10.1136\/jmg.35.4.342","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"342-344","source":"Crossref","is-referenced-by-count":17,"title":["Oral-facial-digital syndrome type IX in a patient with Dandy-Walker malformation."],"prefix":"10.1136","volume":"35","author":[{"given":"K","family":"Nagai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Nagao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Nagao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Yanai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Minagawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y","family":"Takekoshi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Ishizaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y","family":"Matsuzono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Itagaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1998,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1002\/ajmg.1320420608","article-title":"Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type (VIII)","volume":"42","author":"Gurrieri, F.; Sammito, V.; Ricci, B.; Iossa, M.; Bellussi, A.; Neri, G.","year":"1992","unstructured":"Gurrieri F, Sammito V, Ricci B, Iossa M, Bellussi A, Neri G. Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type (VIII). Am J Med Genet 1992;42:789-92.","journal-title":"Am J Med Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1002\/ajmg.1320470234","article-title":"Oral-facial-digital syndrome and retinal abnormalities with autosomal recessive inheritance","volume":"47","author":"Jamieson, R.; Collins, F.","year":"1993","unstructured":"Jamieson R, Collins F. Oral-facial-digital syndrome and retinal abnormalities with autosomal recessive inheritance. AmJMed Genet 1993;47:304-5.","journal-title":"AmJMed Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1002\/ajmg.1320510311","article-title":"Oral-facial-digital syndrome with retinal abnormalities: OFDS type IX. A further case report","volume":"51","author":"Nevin, N.C.; Silvestri, J.; Kernohan, D.C.; Hutchinson, W.M.","year":"1994","unstructured":"Nevin NC, Silvestri J, Kernohan DC, Hutchinson WM. 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Clin Dysmorphol 1993;2:95-105.","journal-title":"Clin Dysmorphol"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/0887-8994(95)00153-7","article-title":"Orofaciodigital syndrome type I in a patient with severe CNS defects","volume":"13","author":"Leao, M.J.; Ribeiro-Silva, M.L.","year":"1995","unstructured":"Leao MJ, Ribeiro-Silva ML. Orofaciodigital syndrome type I in a patient with severe CNS defects. Pediatr Neurol 1995; 13:247-51.","journal-title":"Pediatr Neurol"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1002\/ajmg.1320430415","article-title":"Joubert syndrome: a review","volume":"43","author":"Saraiva, J.M.; Baraitser, M.","year":"1992","unstructured":"Saraiva JM, Baraitser M. Joubert syndrome: a review. 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