{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T08:55:00Z","timestamp":1770281700722,"version":"3.49.0"},"reference-count":9,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1990,7]]},"abstract":"<jats:p>We report a father and son affected by a hitherto unpublished bone dysplasia with moderately severe dwarfism. On initial radiographs, thickening of the diaphyses of the long bones was striking. The small bones of the extremities were almost unaffected. With age, the metaphyseal deformation became more prominent. The epiphyses became irregular and their growth was delayed (particularly the femoral heads). The femoral neck showed an unusual 'lip' on the inner edge. Later, the stubby appearance of the long bones faded and, in adulthood, only enlarged metaphyses and deformed femoral necks persisted. The vertebrae showed moderate deformation with irregular flattening, and narrowing of the spinal canal with a shortened interpedicular distance. The eye defects consisted of high grade myopia, microspherophakia, lens coloboma, lens luxation, and retinal detachment. The name 'microspherophakia-metaphyseal dysplasia' is suggested for this probably autosomal dominant bone dysplasia.<\/jats:p>","DOI":"10.1136\/jmg.27.7.467","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"467-471","source":"Crossref","is-referenced-by-count":7,"title":["Microspherophakia-metaphyseal dysplasia: a 'new' dominantly inherited bone dysplasia with severe eye involvement."],"prefix":"10.1136","volume":"27","author":[{"given":"A","family":"Verloes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Van Maldergem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"de Marneffe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J L","family":"Dufier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Maroteaux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1990,7,1]]},"reference":[{"key":"ref_1","first-page":"735","article-title":"La maladie de Kniest","volume":"30","author":"Maroteaux, P.; Spranger, J.","year":"1973","unstructured":"Maroteaux P, Spranger J. La maladie de Kniest. Arch Fr Pediatr 1973;30:735-50.","journal-title":"Arch Fr Pediatr"},{"issue":"2","key":"ref_2","first-page":"76","article-title":"The Stickler syndrome (hereditary arthroophthalmopathy)","volume":"11","author":"Herrmann, J.; France, T.D.; Spranger, J.W.; Opitz, J.M.; Wiffler, C.","year":"1975","unstructured":"Herrmann J, France TD, Spranger JW, Opitz JM, Wiffler C. The Stickler syndrome (hereditary arthroophthalmopathy). Birth Defects 1975;11(2):76-103.","journal-title":"Birth Defects"},{"issue":"3","key":"ref_3","first-page":"15","article-title":"Gleichzeitiges Vorkommen eines Syndroms vom Pierre Robin und einer fetalen chondrodysplasie","volume":"112","author":"Weissenbacher, G.; Zweymuller, E.","year":"1964","unstructured":"Weissenbacher G, Zweymuller E. Gleichzeitiges Vorkommen eines Syndroms vom Pierre Robin und einer fetalen chondrodysplasie. Monatsschr Kinderheilkd 1964;112:3 15-7.","journal-title":"Monatsschr Kinderheilkd"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/0002-9394(58)90236-8","article-title":"Ectodermal dysplasia: report of a kindred with ocular abnormalities and hearing defect","volume":"45","author":"Marshall, D.","year":"1958","unstructured":"Marshall D. Ectodermal dysplasia: report of a kindred with ocular abnormalities and hearing defect. Am Ophihalmol 1958;45: 143-56.","journal-title":"Am Ophihalmol"},{"key":"ref_5","first-page":"2371","article-title":"Le nanisme micrognathe","volume":"78","author":"Maroteaux, P.; Roux, C.; Fruchter, Z.","year":"1970","unstructured":"Maroteaux P, Roux C, Fruchter Z. Le nanisme micrognathe. Presse Med 1970;78:2371-4.","journal-title":"Presse Med"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1002\/ajmg.1320160209","article-title":"The Weissenbacher-Zweymuller, Stickler and Marshall syndromes: further evidence for their identity","volume":"16","author":"Winter, R.; Baraitser, M.; Laurence, K.M.; Donnai, D.; Hall, C.M.","year":"1983","unstructured":"Winter R, Baraitser M, Laurence KM, Donnai D, Hall CM. The Weissenbacher-Zweymuller, Stickler and Marshall syndromes: further evidence for their identity. Am J Med Genet 1983;16: 189-99.","journal-title":"Am J Med Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1136\/jmg.21.1.34","article-title":"The Marshall and Stickler syndromes: objective rejection of lumping","volume":"21","author":"Ayme, S.; Preus, M.","year":"1984","unstructured":"Ayme S, Preus M. The Marshall and Stickler syndromes: objective rejection of lumping. Med Genet 1984;21:34-8.","journal-title":"Med Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1016\/S0022-3476(81)80324-1","article-title":"The Wagner-Stickler syndrome: a study of 22 families","volume":"99","author":"Libefarb, R.M.; Hirose, T.; Holmes, L.B.","year":"1981","unstructured":"Libefarb RM, Hirose T, Holmes LB. The Wagner-Stickler syndrome: a study of 22 families. Pediatr 1981;99:394-9.","journal-title":"Pediatr"},{"key":"ref_9","first-page":"185","article-title":"Le syndrome de Marchesani (spherophakie-brachymorphie)","volume":"35","author":"Ferrier, S.; Nussle, D.; Friedli, B.; Ferrier, P.E.","year":"1980","unstructured":"Ferrier S, Nussle D, Friedli B, Ferrier PE. Le syndrome de Marchesani (spherophakie-brachymorphie). Helv Paediatr Acta 1980;35:185-98.","journal-title":"Helv Paediatr Acta"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.27.7.467","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:19:54Z","timestamp":1760735994000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.27.7.467"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,7]]},"references-count":9,"journal-issue":{"issue":"7","published-online":{"date-parts":[[1990,7,1]]},"published-print":{"date-parts":[[1990,7]]}},"alternative-id":["10.1136\/jmg.27.7.467"],"URL":"https:\/\/doi.org\/10.1136\/jmg.27.7.467","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,7]]}}}