{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:11:04Z","timestamp":1759687864357,"version":"build-2065373602"},"reference-count":13,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1987,10]]},"abstract":"<jats:p>A family is presented with short stature, femoral epiphyseal dysplasia, mild vertebral changes, and sensorineural deafness inherited as an autosomal dominant trait. Myopia and retinal detachment presenting in adult life were also present in some affected members. We suggest that this disorder may be a distinct entity within the spondyloepiphyseal dysplasia group of disorders.<\/jats:p>","DOI":"10.1136\/jmg.24.10.602","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"602-608","source":"Crossref","is-referenced-by-count":8,"title":["Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance."],"prefix":"10.1136","volume":"24","author":[{"given":"K D","family":"MacDermot","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S C","family":"Roth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Hall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R M","family":"Winter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1987,10,1]]},"reference":[{"issue":"44","key":"ref_1","first-page":"490","article-title":"Dysplasia spondiloepiphysaria congenita and related generalised skeletal dysplasias among children with severe visual handicaps","volume":"1969","author":"Fraser, G.R.; Al, Friedmann; Maroteaux, P.; Glen-Bott, A.M.; Mittwoch, U.","unstructured":"Fraser GR, Friedmann Al, Maroteaux P, Glen-Bott AM, Mittwoch U. Dysplasia spondiloepiphysaria congenita and related generalised skeletal dysplasias among children with severe visual handicaps. Arch Dis Child 1969;44:490-8.","journal-title":"Arch Dis Child"},{"article-title":"Langer.3 Deafness was described","author":"in association with","key":"ref_2","unstructured":"Langer.3 Deafness was described in association with"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1302\/0301-620X.64B4.6807992","article-title":"Two clinical variants of spondyloepiphysial dysplasia congenita","volume":"64","author":"Wynne-Davies, R.; Hall, C.","year":"1982","unstructured":"Wynne-Davies R, Hall C. Two clinical variants of spondyloepiphysial dysplasia congenita. J Bone Joint Surg (Br) 1982;64:435-41.","journal-title":"J Bone Joint Surg (Br)"},{"key":"ref_4","first-page":"313","article-title":"Spondyloepiphyseal dysplasia confive patients with deafness in their study of SEDC associated with severe visual handicap. Deafness was not included among the symptoms of SEDC by Spranger and Langer. genita","volume":"94","author":"Spranger, J.W.; Langer, L.O.","year":"1970","unstructured":"Spranger JW, Langer LO. Spondyloepiphyseal dysplasia confive patients with deafness in their study of SEDC associated with severe visual handicap. Deafness was not included among the symptoms of SEDC by Spranger and Langer. genita. Radiology 1970;94:313-22.","journal-title":"Radiology"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1136\/jmg.19.2.139","article-title":"Marshall\/Stickler syndrome","volume":"19","author":"Baraitser, M.","year":"1982","unstructured":"Baraitser M. Marshall\/Stickler syndrome. J Med Genet 1982;19:139-40.","journal-title":"J Med Genet"},{"key":"ref_6","first-page":"173","article-title":"Dominant inheritance of multiple epiphyseal dysplasia, myopia and deafness. Clin Genet Perthes' disease and its variant, dysplasia epiphysealis capitis femoris,6 also presents with early childhood hip discomfort, but the evolution of usually unilateral radiological changes is clearly","volume":"14","author":"Beighton, P.; Goldberg, L.; Op't Hof, J.","year":"1978","unstructured":"Beighton P, Goldberg L, Op't Hof J. Dominant inheritance of multiple epiphyseal dysplasia, myopia and deafness. Clin Genet Perthes' disease and its variant, dysplasia epiphysealis capitis femoris,6 also presents with early childhood hip discomfort, but the evolution of usually unilateral radiological changes is clearly 1978;14: 173-7."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"183","DOI":"10.3109\/17453676408989316","article-title":"Dysplasia epiphysealis capitis femoris","volume":"34","author":"Meyer, J.","year":"1964","unstructured":"Meyer J. Dysplasia epiphysealis capitis femoris. Acta Orthop Scand 1964;34: 183-97.","journal-title":"Acta Orthop Scand"},{"key":"ref_8","first-page":"131","article-title":"Hereditary Legg-Calve-Perthes disease","volume":"106","author":"Wamoscher, Z.; Farhi, A.","year":"1963","unstructured":"Wamoscher Z, Farhi A. Hereditary Legg-Calve-Perthes disease. Am J Dis Child 1963;106:131-4.","journal-title":"Am J Dis Child"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1002\/ajmg.1320190116","article-title":"Namaqualand hip dysplasia: an autosomal dominant entity","volume":"19","author":"Beighton, P.; Christy, G.; Learmonth, I.D.","year":"1984","unstructured":"Beighton P, Christy G, Learmonth ID. Namaqualand hip dysplasia: an autosomal dominant entity. Am J Med Genet 1984;19: 161-9.","journal-title":"Am J Med Genet"},{"key":"ref_10","first-page":"994","article-title":"Upington disease: a familial dyschondroplasia","volume":"45","author":"Schweitzer, G.; Jones, B.; Timme, A.","year":"1971","unstructured":"Schweitzer G, Jones B, Timme A. Upington disease: a familial dyschondroplasia. S Afr Med J 1971;45:994-1000.","journal-title":"S Afr Med J"},{"key":"ref_11","first-page":"1414","article-title":"Epiphyseal dysplasia of the femoral head, severe myopia and perceptive hearing loss in three brothers","volume":"4","author":"Pfeiffer, R.A.; Junemann, G.; Polster, J.; Bauer, H.","year":"1973","unstructured":"Pfeiffer RA, Junemann G, Polster J, Bauer H. Epiphyseal dysplasia of the femoral head, severe myopia and perceptive hearing loss in three brothers. Clin Genet 1973;4:1414.","journal-title":"Clin Genet"},{"key":"ref_12","first-page":"46","article-title":"The epiphyseal dysplasias","volume":"114","author":"Spranger, J.","year":"1976","unstructured":"Spranger J. The epiphyseal dysplasias. Clin Orthop 1976;114:46-60.","journal-title":"Clin Orthop"},{"key":"ref_13","first-page":"137","article-title":"necessitating hip replacement. However, the 12 Rimoin DL, Silberberg R, Hollister DW. Chondro-osseous vertebral changes are not as marked as in our family and the onset is later in childhood. Deafness and eye pathology in the chondrodystrophies","volume":"114","author":"velops","year":"1976","unstructured":"velops, necessitating hip replacement. However, the 12 Rimoin DL, Silberberg R, Hollister DW. Chondro-osseous vertebral changes are not as marked as in our family and the onset is later in childhood. Deafness and eye pathology in the chondrodystrophies. Clin Orthop 1976;114:137-52.","journal-title":"Clin Orthop"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.24.10.602","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T17:35:33Z","timestamp":1759685733000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.24.10.602"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,10]]},"references-count":13,"journal-issue":{"issue":"10","published-online":{"date-parts":[[1987,10,1]]},"published-print":{"date-parts":[[1987,10]]}},"alternative-id":["10.1136\/jmg.24.10.602"],"URL":"https:\/\/doi.org\/10.1136\/jmg.24.10.602","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1987,10]]}}}