{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:10:07Z","timestamp":1760771407169,"version":"build-2065373602"},"reference-count":10,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1992,10]]},"abstract":"<jats:p>This report describes the clinical and neuropathological features in male and female sibs who died shortly after birth as a result of frequent convulsions and lack of spontaneous respiratory effect. Both sibs had a prominent occiput with mild contractures and the female also had overlapping fingers and rockerbottom feet. The genetic and neuropathological findings were consistent with a diagnosis of an autosomal recessive form of olivopontoneocerebellar hypoplasia\/atrophy.<\/jats:p>","DOI":"10.1136\/jmg.29.10.733","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"733-735","source":"Crossref","is-referenced-by-count":12,"title":["Lethal olivopontoneocerebellar hypoplasia with dysmorphic features in sibs."],"prefix":"10.1136","volume":"29","author":[{"given":"I D","family":"Young","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P A","family":"McKeever","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M V","family":"Squier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Grant","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1992,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1136\/jnnp.21.3.159","article-title":"Cerebellar hypoplasia associated with systemic degeneration in early life","volume":"21","author":"Norman, R.M.; Urich, H.","year":"1958","unstructured":"Norman RM, Urich H. Cerebellar hypoplasia associated with systemic degeneration in early life. J Neurol Neurosurg Psychiatry 1958;21:159-66.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1136\/jnnp.51.3.385","article-title":"Familial olivopontocerebellar atrophy with neonatal onset: a recessively inherited syndrome with systemic and biochemical abnormalities","volume":"51","author":"Harding, B.N.; Dunger, D.B.; Grant, D.B.; Erdohazi, M.","year":"1988","unstructured":"Harding BN, Dunger DB, Grant DB, Erdohazi M. Familial olivopontocerebellar atrophy with neonatal onset: a recessively inherited syndrome with systemic and biochemical abnormalities. J Neurol Neurosurg Psychiatry 1988;51:385-90.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/0022-510X(90)90096-6","article-title":"Inherited syndrome of microcephaly, dyskinesia and pontocerebellar hypoplasia: a systemic atrophy with early onset","volume":"97","author":"Barth, P.G.; Vrensen, G.F.J.M.; Uylings, H.B.M.; Oorthuys, J.W.E.; Stam, F.C.","year":"1990","unstructured":"Barth PG, Vrensen GFJM, Uylings HBM, Oorthuys JWE, Stam FC. Inherited syndrome of microcephaly, dyskinesia and pontocerebellar hypoplasia: a systemic atrophy with early onset. J Neurol Sci 1990;97:25-42.","journal-title":"J Neurol Sci"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1002\/ajmg.1320250112","article-title":"Invited editorial comment: analysis of Pena Shokeir phenotype","volume":"25","author":"Hall, J.G.","year":"1986","unstructured":"Hall JG. Invited editorial comment: analysis of Pena Shokeir phenotype. Am J Med Genet 1986;25:99-117.","journal-title":"Am J Med Genet"},{"key":"ref_5","first-page":"65568","article-title":"The Pena-Shokeir syndrome: report of nine Dutch cases","volume":"21","author":"Lindhout, D.; Hageman, G.; Beemer, F.A.; Ippel, P.F.; BreslauSiderius, L.; Willemse, J.","year":"1985","unstructured":"Lindhout D, Hageman G, Beemer FA, Ippel PF, BreslauSiderius L, Willemse J. The Pena-Shokeir syndrome: report of nine Dutch cases. AmJ7 Med Genet 1985;21:65568.","journal-title":"AmJ7 Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1002\/ajmg.1320030305","article-title":"The Bowen-Conradi syndrome - a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight and joint deformities","volume":"3","author":"Hunter, A.G.W.; Woerner, S.J.; Montalvo-Hicks, L.D.C.","year":"1979","unstructured":"Hunter AGW, Woerner SJ, Montalvo-Hicks LDC, et al. The Bowen-Conradi syndrome - a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight and joint deformities. Am J Med Genet 1979;3:269-79.","journal-title":"Am J Med Genet"},{"key":"ref_7","first-page":"203","article-title":"Neocerebellar hypoplasia with systemic combined olivo-ponto-dentatal degeneration in a 9day-old baby: contribution to the problem of relations between malformation and systemic degeneration in early life","volume":"5","author":"Kawagoe, T.; Jacob, H.","year":"1986","unstructured":"Kawagoe T, Jacob H. Neocerebellar hypoplasia with systemic combined olivo-ponto-dentatal degeneration in a 9day-old baby: contribution to the problem of relations between malformation and systemic degeneration in early life. Clin Neuropathol 1986;5:203-8.","journal-title":"Clin Neuropathol"},{"key":"ref_8","first-page":"33","article-title":"Pontoneocerebellar hypoplasia: report of a case in a newborn and review of the literature","volume":"9","author":"Pitella, J.E.H.; Nogueira, A.M.M.F.","year":"1990","unstructured":"Pitella JEH, Nogueira AMMF. Pontoneocerebellar hypoplasia: report of a case in a newborn and review of the literature. Clin Neuropathol 1990;9:33-8.","journal-title":"Clin Neuropathol"},{"key":"ref_9","first-page":"160","article-title":"Pontoneocerebellar hypoplasia - a probable consequence of prenatal destruction of the pontine nuclei and a possible role of phenytoin intoxication","volume":"3","author":"Gadisseaux, J.F.; Rodriguez, J.; Lyon, J.","year":"1984","unstructured":"Gadisseaux JF, Rodriguez J, Lyon J. Pontoneocerebellar hypoplasia - a probable consequence of prenatal destruction of the pontine nuclei and a possible role of phenytoin intoxication. Clin Neuropathol 1984;3:160-7.","journal-title":"Clin Neuropathol"},{"key":"ref_10","first-page":"72542","article-title":"Neocerebellar hypoplasia in a neonate following intra-uterine exposure to anticonvulsants","volume":"32","author":"Squier, W.; Hope, P.L.; Lindenbaum, R.H.","year":"1990","unstructured":"Squier W, Hope PL, Lindenbaum RH. Neocerebellar hypoplasia in a neonate following intra-uterine exposure to anticonvulsants. Dev Med Child Neurol 1990;32:72542.","journal-title":"Dev Med Child Neurol"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.29.10.733","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:44:57Z","timestamp":1760769897000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.29.10.733"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,10]]},"references-count":10,"journal-issue":{"issue":"10","published-online":{"date-parts":[[1992,10,1]]},"published-print":{"date-parts":[[1992,10]]}},"alternative-id":["10.1136\/jmg.29.10.733"],"URL":"https:\/\/doi.org\/10.1136\/jmg.29.10.733","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1992,10]]}}}