{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:56Z","timestamp":1761718076966,"version":"build-2065373602"},"reference-count":8,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1977,12]]},"abstract":"<jats:p>This paper describes 6 individuals, occurring in 3 generations of a single family, who were affected by a distinct syndrome which included: retardation and microcephaly; a small oval face with almond-shaped eyes, droopy eyelids, a small nose, and small downturned mouth; minor acral skeletal anomalies, and short stature. Craniosynostosis, heart defects, and limited elbow extension were seen less frequently. Expression was variable and parents who were in the direct vertical line of transmission of the syndrome showed few, if any, overt signs of the disease. However, the metacarpal\/phalangeal profile of the parents showed a similar pattern to that seen in the affected individuals, and it is suggested that this profile may be the most sensitive indicator of carrier status.<\/jats:p>","DOI":"10.1136\/jmg.14.6.430","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"430-437","source":"Crossref","is-referenced-by-count":21,"title":["A 'new' syndrome of mental retardation with characteristic facies and brachyphalangy."],"prefix":"10.1136","volume":"14","author":[{"given":"A G","family":"Hunter","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P J","family":"McAlpine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N L","family":"Rudd","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F C","family":"Fraser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1977,12,1]]},"reference":[{"key":"ref_1","article-title":"Centromeric linkage in man","author":"C6te, G.B.","year":"1975","unstructured":"C6te, G. B. (1975). Centromeric linkage in man. Ph. D. Thesis, University of Birmingham, Birmingham, England."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1111\/j.1399-0004.1972.tb01470.x","article-title":"A marker algebra","volume":"3","author":"Edwards, J.H.","year":"1972","unstructured":"Edwards, J. H. (1972). A marker algebra. Clinical Genetics, 3, 371-380.","journal-title":"Clinical Genetics"},{"key":"ref_3","first-page":"301310","article-title":"Craniosynostosis. Part II: Coronal synostosis; its familial characteristics and associated clinical findings in 109 patients who lacked bilateral polysyndactyly or syndactyly","volume":"15","author":"Hunter, A.G.W.; Rudd, N.L.","year":"1977","unstructured":"Hunter, A. G. W., and Rudd, N. L. (1977). Craniosynostosis. Part II: Coronal synostosis; its familial characteristics and associated clinical findings in 109 patients who lacked bilateral polysyndactyly or syndactyly. Teratology, 15, 301310.","journal-title":"Teratology"},{"key":"ref_4","first-page":"42","article-title":"Mendelian inheritance in Man","author":"McKusick, V.A.","year":"1975","unstructured":"McKusick, V. A. (1975). Mendelian inheritance in Man, 4th ed., p. 42. The Johns Hopkins University Press, Baltimore.","edition":"4th ed"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1007\/BF00295627","article-title":"Chromosome 7 short arm deletion and craniosynostosis. A 7p-syndrome","volume":"35","author":"McPherson, E.; Hall, J.B.; Hickman, R.; Gong, B.T.; Norwood, T.H.; Hoehn, J.","year":"1976","unstructured":"McPherson, E., Hall, J. B., Hickman, R., Gong, B. T., Norwood, T. H., and Hoehn, J. (1976). Chromosome 7 short arm deletion and craniosynostosis. A 7p-syndrome. Human Genetics, 35, 117-123.","journal-title":"Human Genetics"},{"key":"ref_6","first-page":"29","article-title":"The Hand in Radiologic Diagnosis","author":"Poznanski, A.K.","year":"1974","unstructured":"Poznanski, A. K. (1974). The Hand in Radiologic Diagnosis, pp. 29-44."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1136\/jmg.12.4.401","article-title":"Distal brachyphalangy of the thumb in mental retardation","volume":"12","author":"Villeverde, M.M.; Da Silva, J.A.","year":"1975","unstructured":"Villeverde, M. M., and Da Silva, J. A. (1975). Distal brachyphalangy of the thumb in mental retardation. Journal of Medical Genetics, 12, 401-404.","journal-title":"Journal of Medical Genetics"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1159\/000130457","article-title":"Giant satellites or translocation?","volume":"12","author":"Wilson, M.G.; Fujimoto, A.; Shinno, N.W.; Towner, J.W.","year":"1973","unstructured":"Wilson, M. G., Fujimoto, A., Shinno, N. W., and Towner, J. W. (1973). Giant satellites or translocation? Cytogenetics and Cell Genetics, 12, 209-214.","journal-title":"Cytogenetics and Cell Genetics"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.14.6.430","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:22:27Z","timestamp":1759688547000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.14.6.430"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1977,12]]},"references-count":8,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1977,12,1]]},"published-print":{"date-parts":[[1977,12]]}},"alternative-id":["10.1136\/jmg.14.6.430"],"URL":"https:\/\/doi.org\/10.1136\/jmg.14.6.430","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1977,12]]}}}