{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T15:37:15Z","timestamp":1770219435284,"version":"3.49.0"},"reference-count":7,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1990,11]]},"abstract":"<jats:p>A brother and two sisters of remotely consanguineous parents had congenital laryngeal abductor paralysis and moderate mental retardation. In the two older sibs, mental deficiency could have resulted from birth asphyxia, but the youngest girl was already microcephalic at birth and had no apparent asphyxia. The mother, who was healthy and of normal intelligence, was found on laryngoscopy to have unilateral laryngeal abductor paralysis. This is the first family with both mentally retarded and nonretarded affected members with congenital laryngeal abductor paralysis. Inheritance is most likely autosomal dominant with variable expression, but autosomal recessive inheritance, with both parents carriers and the mother an affected homozygote, and X linked inheritance are also possible.<\/jats:p>","DOI":"10.1136\/jmg.27.11.715","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"715-716","source":"Crossref","is-referenced-by-count":17,"title":["Familial congenital laryngeal abductor paralysis: different expression in a family with one male and three females affected."],"prefix":"10.1136","volume":"27","author":[{"given":"A","family":"Schinzel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Hof","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Dangel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1990,11,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1056\/NEJM196409172711203","article-title":"Congenital laryngeal-abductor paralysis due to nucleus ambiguus dysgenesis in three brothers","volume":"271","author":"Plott, D.","year":"1964","unstructured":"Plott D. 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Ann Otol 1976;85:90."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1111\/j.1399-0004.1978.tb02145.x","article-title":"Autosomal dominantly inherited abductor laryngeal paralysis-a new syndrome with a suggestion of linkage to HLA","volume":"14","author":"Mace, M.; Williamson, E.; Worgan, D.","year":"1978","unstructured":"Mace M, Williamson E, Worgan D. Autosomal dominantly inherited abductor laryngeal paralysis-a new syndrome with a suggestion of linkage to HLA. Clin Genet 1978;14:265-70.","journal-title":"Clin Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1136\/jmg.17.4.325-a","article-title":"Autosomal dominant inheritance of Gerhardt's syndrome in three generations of a family","volume":"17","author":"Moreili, G.; Mesolella, C.; Cavaliere, M.L.; Stabile, M.; Ventruto, V.","year":"1980","unstructured":"Moreili G, Mesolella C, Cavaliere ML, Stabile M, Ventruto V. Autosomal dominant inheritance of Gerhardt's syndrome in three generations of a family. J Med Genet 1980;17:325.","journal-title":"J Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1177\/000348948209100319","article-title":"Familial laryngeal abductor paralysis with presumedautosomal dominant inheritance","volume":"91","author":"Morelli, G.; Mesolella, C.; Costa, F.; Testa, B.; Ventruto, V.; Santulli, B.","year":"1982","unstructured":"Morelli G, Mesolella C, Costa F, Testa B, Ventruto V, Santulli B. Familial laryngeal abductor paralysis with presumedautosomal dominant inheritance. Ann Otol Rhinol Laryngol 1982;91:323-4.","journal-title":"Ann Otol Rhinol Laryngol"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1055\/s-2007-1008550","article-title":"Die familiar gehaufte Rekurrensparese, ein genetisch fixiertes Syndrom-erneut Hinweise fur eine Kopplung des Defektgens mit dem HLA-System","volume":"61","author":"Brunner, F.X.; Herrmann, I.F.","year":"1982","unstructured":"Brunner FX, Herrmann IF. Die familiar gehaufte Rekurrensparese, ein genetisch fixiertes Syndrom-erneut Hinweise fur eine Kopplung des Defektgens mit dem HLA-System. Laryngol Rhinol Otol 1982;61:186-8.","journal-title":"Laryngol Rhinol Otol"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.27.11.715","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:56:06Z","timestamp":1760774166000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.27.11.715"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,11]]},"references-count":7,"journal-issue":{"issue":"11","published-online":{"date-parts":[[1990,11,1]]},"published-print":{"date-parts":[[1990,11]]}},"alternative-id":["10.1136\/jmg.27.11.715"],"URL":"https:\/\/doi.org\/10.1136\/jmg.27.11.715","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,11]]}}}