{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:10:47Z","timestamp":1760739047275,"version":"build-2065373602"},"reference-count":14,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1982,4]]},"abstract":"<jats:p>A syndrome characterised by asymmetrical radial dysplasia, dysmorphic facies, conductive deafness, and external ear deformity is described in a mother and her daughter. This combination of anomalies has previously been reported in members of a single family. The disorder appears to be clinically and genetically distinct from others associated with radial dysplasia, such as Nager's acrofacial dysostosis and the lachrimoauriculoradiodental syndrome. Inheritance is autosomal dominant, with marked variation in expression of the mutant gene.<\/jats:p>","DOI":"10.1136\/jmg.19.2.110","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"110-115","source":"Crossref","is-referenced-by-count":9,"title":["Autosomal dominant asymmetrical radial dysplasia, dysmorphic facies, and conductive hearing loss (facioauriculoradial dysplasia)"],"prefix":"10.1136","volume":"19","author":[{"given":"A E","family":"Harding","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C M","family":"Hall","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":[[1982,4,1]]},"reference":[{"key":"ref_1","first-page":"409","article-title":"Anomalies associated with radial the cases of the LARD syndrome described to date. The Juberg-Hayward syndrome is probably of autosomal recessive inheritance. It comprises bilateral or unilateral cleft lip\/palate, mild microdysplasia","volume":"84","author":"Carroll, R.E.; Louis, D.S.","year":"1974","unstructured":"Carroll RE, Louis DS. Anomalies associated with radial the cases of the LARD syndrome described to date. The Juberg-Hayward syndrome is probably of autosomal recessive inheritance. It comprises bilateral or unilateral cleft lip\/palate, mild microdysplasia. JPediatr 1974;84:409-1 1.","journal-title":"JPediatr"},{"key":"ref_2","first-page":"2","article-title":"The lateral clavicular hook: its probably autosomal recessive. The features of mandibulofacial dysostosis are downward slanting palpebral fissures, hypoplasia of the mandible, deformed ears with conductive deafness, macrostoobjective measurement and its diagnostic value in Holt-Oram syndrome, diastrophic dwarfism, thrombocytopenia absent radius syndrome and trisomy 8","author":"Igual, M.; Giedion, A.","year":"1979","unstructured":"Igual M, Giedion A. The lateral clavicular hook: its probably autosomal recessive. The features of mandibulofacial dysostosis are downward slanting palpebral fissures, hypoplasia of the mandible, deformed ears with conductive deafness, macrostoobjective measurement and its diagnostic value in Holt-Oram syndrome, diastrophic dwarfism, thrombocytopenia absent radius syndrome and trisomy 8. Ann Radiol (Paris) 1979;2-3:136-41.","journal-title":"Ann Radiol (Paris)"},{"key":"ref_3","first-page":"978","article-title":"Mesoectodermal dysplasia. A new combination mia, malformations of the palate, and colobomata of of anomalies","volume":"63","author":"Levy, W.J.","year":"1967","unstructured":"Levy WJ. Mesoectodermal dysplasia. A new combination mia, malformations of the palate, and colobomata of of anomalies. Am J Ophthalmol 1967;63:978-82. Autosomal dominant asymmetrical radial dysplasia, dysmorphicfacies, and conductive hearing loss","journal-title":"Am J Ophthalmol; Autosomal dominant asymmetrical radial dysplasia, dysmorphicfacies, and conductive hearing loss"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1016\/S0022-3476(73)80268-9","article-title":"The lacrimo-auriculo-dento-digital syndrome","volume":"83","author":"Hollister, D.W.; Klein, S.H.; De, Hendrick J.; J, Lachman; RS, Rimoin; D.L.","year":"1973","unstructured":"Hollister DW, Klein SH, Hendrick J De J, Lachman RS, Rimoin DL. The lacrimo-auriculo-dento-digital syndrome. 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Apparent autosomal recessive inheritance of the Treacher Collins syndrome. Birth Defects 1974; X(8):135-7.","journal-title":"Birth Defects"},{"key":"ref_8","first-page":"52","article-title":"Uber aneborenen Radius defekt, Ohrdefekt, Facialislahmungen anlasslich eines Falles von multiplen Missbildungen. Z Menschl Vererb it Konstit Lehre","volume":"14","author":"Essen-Moller, E.","year":"1929","unstructured":"Essen-Moller E. Uber aneborenen Radius defekt, Ohrdefekt, Facialislahmungen anlasslich eines Falles von multiplen Missbildungen. Z Menschl Vererb it Konstit Lehre 1929;14:52-68."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1016\/S0022-3476(63)80233-4","article-title":"Oculoauriculovertebral dysplasia","volume":"63","author":"Gorlin, R.J.; Jue, K.L.; Jacobsen, U.; Goldschmidt, E.","year":"1963","unstructured":"Gorlin RJ, Jue KL, Jacobsen U, Goldschmidt E. Oculoauriculovertebral dysplasia. 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