{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:19:23Z","timestamp":1760833163885,"version":"build-2065373602"},"reference-count":7,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1989,10]]},"abstract":"<jats:p>A boy with severe developmental delay, bilateral, symmetrical hallucal duplication, and accessory alveolar frenula was found to have radiological evidence of a large arachnoid cyst compressing the cerebellum and brain stem. We review neurological abnormalities in Mohr's syndrome.<\/jats:p>","DOI":"10.1136\/jmg.26.10.659","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"659-663","source":"Crossref","is-referenced-by-count":23,"title":["Central nervous system malformations in Mohr's syndrome."],"prefix":"10.1136","volume":"26","author":[{"given":"W","family":"Reardon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M G","family":"Harbord","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M A","family":"Hall-Craggs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Kendall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E M","family":"Brett","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Baraitser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1989,10,1]]},"reference":[{"key":"ref_1","first-page":"94","article-title":"Mat-Naturv klasse 1941; 14","volume":"2","author":"Rimoin, D.L.; Edgerton, M.T.","year":"1967","unstructured":"Mat-Naturv klasse 1941;14:3-17. 2 Rimoin DL, Edgerton MT. Genetic and clinical heterogeneity in the oro-facial-digital syndromes. J Pediatr 1967;71:94-102.","journal-title":"J Pediatr; Genetic and clinical heterogeneity in the oro-facial-digital syndromes"},{"key":"ref_2","first-page":"41","article-title":"The genetics of hand malformations. Birth Defects 1978; XIV(No","volume":"4","author":"Temtamy, S.A.; McKusick, V.A.","year":"1983","unstructured":"Temtamy SA, McKusick VA. The genetics of hand malformations. Birth Defects 1978;XIV(No 3). 4 Haumont D, Pelc S. The Mohr syndrome-are there two variants? Clin Genet 1983;24:41-6.","journal-title":"Clin Genet; The Mohr syndrome-are there two variants"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1111\/j.1399-0004.1971.tb00287.x","article-title":"Syndrome characterised by lingual malformation, polydactyly, tachypnea and psychomotor retardation (Mohr syndrome)","volume":"2","author":"Gustavson, K.H.; Kreuger, A.; Peterson, P.O.","year":"1971","unstructured":"Gustavson KH, Kreuger A, Peterson PO. Syndrome characterised by lingual malformation, polydactyly, tachypnea and psychomotor retardation (Mohr syndrome). Clin Genet 1971;2: 261-6.","journal-title":"Clin Genet"},{"key":"ref_4","article-title":"Mendelian inheritance in man","author":"McKusick, V.A.","year":"1988","unstructured":"McKusick VA. Mendelian inheritance in man. 8th ed. Baltimore: Johns Hopkins University Press. 1988.","edition":"8th ed"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"813","DOI":"10.1212\/WNL.19.9.813","article-title":"Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia and mental retardation","volume":"19","author":"Joubert, M.; Eisenring, J.J.; Robb, J.P.; Andermann, F.","year":"1969","unstructured":"Joubert M, Eisenring JJ, Robb JP, Andermann F. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia and mental retardation. Neurology (Minneap) 1969;19:813-25.","journal-title":"Neurology (Minneap)"},{"key":"ref_6","first-page":"642","article-title":"Neuropathology of oro-facial-digital syndromes","volume":"109","author":"Towfighi, J.; Berlin, C.M.; Ladda, R.L.; Frauenhoffer, E.E.; Lehman, R.A.W.","year":"1985","unstructured":"Towfighi J, Berlin CM, Ladda RL, Frauenhoffer EE, Lehman RAW. Neuropathology of oro-facial-digital syndromes. Arch Pathol Lab Med 1985;109:642-6.","journal-title":"Arch Pathol Lab Med"},{"key":"ref_7","first-page":"\"709","article-title":"Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation","volume":"59","author":"King, M.D.; Dudgeon, J.; Stephenson, J.B.P.","year":"1984","unstructured":"King MD, Dudgeon J, Stephenson JBP. Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation. Arch Dis Child 1984;59: 709-18. '0 Friede RL, Bolthauser E. Uncommon syndromes of cerebellar vermis aplasia. I. Joubert syndrome. Dev Med Child Neurol 1978;20:75863.","journal-title":"Arch Dis Child; 0 Friede RL, Bolthauser E. Uncommon syndromes of cerebellar vermis aplasia"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.26.10.659","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:54:51Z","timestamp":1760774091000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.26.10.659"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,10]]},"references-count":7,"journal-issue":{"issue":"10","published-online":{"date-parts":[[1989,10,1]]},"published-print":{"date-parts":[[1989,10]]}},"alternative-id":["10.1136\/jmg.26.10.659"],"URL":"https:\/\/doi.org\/10.1136\/jmg.26.10.659","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1989,10]]}}}