{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T08:08:15Z","timestamp":1791360495351,"version":"4.3.1"},"reference-count":10,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1990,3]]},"abstract":"<jats:p>A female with the Brown-Vialetto-Van Laere syndrome is described. The patient's father, a paternal uncle, and possibly a paternal first cousin had neurosensory deafness and a paternal aunt had clinical symptoms indicative of the syndrome. This family raises the possibility that the disorder is genetically heterogeneous with autosomal recessive and autosomal dominant forms. Alternatively, it could be caused by a mutant gene on the X chromosome.<\/jats:p>","DOI":"10.1136\/jmg.27.3.176","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"176-179","source":"Crossref","is-referenced-by-count":41,"title":["Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance."],"prefix":"10.1136","volume":"27","author":[{"given":"S A","family":"Hawkins","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N C","family":"Nevin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A E","family":"Harding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1990,3,1]]},"reference":[{"key":"ref_1","first-page":"1","article-title":"Contributo alla forma ereditaria della paralisi bulbare progressiva. Riv Sper Freniat 1936; 40","author":"Vialetto, E.","unstructured":"Vialetto E. Contributo alla forma ereditaria della paralisi bulbare progressiva. Riv Sper Freniat 1936;40:1-24."},{"key":"ref_2","first-page":"289","article-title":"Paralysie bulbo-pontine chronique progressive familiale avec surdite. Un cas de syndrome de KlippelTrenaunay dans la meme fratrie. ProbUmes diagnostiques et gen6tiques","volume":"115","author":"J, Van Laere","year":"1966","unstructured":"Van Laere J. Paralysie bulbo-pontine chronique progressive familiale avec surdite. Un cas de syndrome de KlippelTrenaunay dans la meme fratrie. ProbUmes diagnostiques et gen6tiques. Rev Neurol (Paris) 1966;115:289-95.","journal-title":"Rev Neurol (Paris)"},{"key":"ref_3","first-page":"119","article-title":"Un nouveau cas de paralysie bulbo-pontine chronique progressive avec surdite","volume":"33","author":"J, Van Laere","year":"1977","unstructured":"Van Laere J. Un nouveau cas de paralysie bulbo-pontine chronique progressive avec surdite. Rev Neurol (Paris) 1977;33: 119-24.","journal-title":"Rev Neurol (Paris)"},{"key":"ref_4","first-page":"158","article-title":"Paralysie bulbo-pontine chronique progressive avec surdite. A propos d'une observation de syndrome de Fazio-Londe","volume":"40","author":"Arnould, G.; Tridon, P.; Laxenaire, M.; Picard, L.; Weber, M.; Brichet, B.","year":"1968","unstructured":"Arnould G, Tridon P, Laxenaire M, Picard L, Weber M, Brichet B. Paralysie bulbo-pontine chronique progressive avec surdite. A propos d'une observation de syndrome de Fazio-Londe. Rev Otowneurphthalmol 1968;40:158-61.","journal-title":"Rev Otowneurphthalmol"},{"key":"ref_5","first-page":"145","article-title":"La paralysie bulbo-pontine chronique progressive avec surdite (a propos d'une observation clinique)","volume":"223","author":"Triliet, M.; Girrard, P.F.; Schott, B.; Ramel, P.; Woehrle, R.","year":"1970","unstructured":"Triliet M, Girrard PF, Schott B, Ramel P, Woehrle R. La paralysie bulbo-pontine chronique progressive avec surdite (a propos d'une observation clinique). LyonMed 1970;223:145-53.","journal-title":"LyonMed"},{"key":"ref_6","first-page":"821","article-title":"Amyotrophies degeneratives et lesions du neurone moteur","volume":"109","author":"Serratrice, G.; Gastaut, J.L.","year":"1972","unstructured":"Serratrice G, Gastaut JL. Amyotrophies degeneratives et lesions du neurone moteur (a propos de 32 observations). MarseilleMed 1972;109:821-40."},{"key":"ref_7","first-page":"309","article-title":"Progressive pontobulbar palsy with deafness-a clinico-pathological study","volume":"76","author":"Lombaert, A.; Dom, R.; Carton, H.; Brucher, J.M.","year":"1976","unstructured":"Lombaert A, Dom R, Carton H, Brucher JM. Progressive pontobulbar palsy with deafness-a clinico-pathological study. Acta Neurol Belg 1976;76:309-14.","journal-title":"Acta Neurol Belg"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1001\/archneur.1980.00500530052007","article-title":"Progressive bulbar paralysis associated with neural deafness-a nosological entity","volume":"37","author":"Alberca, R.; Montero, C.; Ibafiez, A.; Segura, D.I.; Miranda-Nieves, G.","year":"1980","unstructured":"Alberca R, Montero C, Ibafiez A, Segura DI, Miranda-Nieves G. Progressive bulbar paralysis associated with neural deafness-a nosological entity. Arch Neurol 1980;37:214-21.","journal-title":"Arch Neurol"},{"key":"ref_9","first-page":"90","article-title":"Cas familial de paralysie bulbo-pontine chronique progressive avec surdite","volume":"124","author":"Boudin, G.; Pepin, B.; Vernant, J.C.; Gautier, B.; Gouerou, B.","year":"1971","unstructured":"Boudin G, Pepin B, Vernant JC, Gautier B, Gouerou B. Cas familial de paralysie bulbo-pontine chronique progressive avec surdite. Rev Neurol (Paris) 1971;124:90-2.","journal-title":"Rev Neurol (Paris)"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/0022-510X(81)90172-6","article-title":"Ponto-bulbar palsy with deafness (BrownVialetto-Van Laere syndrome)","volume":"50","author":"GalIai, V.; Hockaday, J.M.; Hughes, J.T.; Lane, D.J.; Oppenheimer, D.R.; Rushworth, G.","year":"1981","unstructured":"GalIai V, Hockaday JM, Hughes JT, Lane DJ, Oppenheimer DR, Rushworth G. Ponto-bulbar palsy with deafness (BrownVialetto-Van Laere syndrome). 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