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These cases are compared with reported cases of the Schwartz-Jampel syndrome.<\/jats:p>","DOI":"10.1136\/jmg.21.2.103","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"103-107","source":"Crossref","is-referenced-by-count":1,"title":["Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome."],"prefix":"10.1136","volume":"21","author":[{"given":"A","family":"Richieri-Costa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S M","family":"Garcia da Silva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O","family":"Frota-Pessoa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1984,4,1]]},"reference":[{"issue":"68","key":"ref_1","first-page":"52","article-title":"Congenital blepharophimosis associated with a unique generalized myopathy","volume":"1962","author":"Schwartz 0, Jampel RS","unstructured":"Schwartz 0, Jampel RS. Congenital blepharophimosis associated with a unique generalized myopathy. Arch Ophthalmnol 1962;68:52-7.","journal-title":"Arch Ophthalmnol"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1093\/brain\/88.2.313","article-title":"Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome)","volume":"88","author":"Aberfeld, D.C.; Hinterbuchner, L.P.; Schneider, M.","year":"1965","unstructured":"Aberfeld DC, Hinterbuchner LP, Schneider M. Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome). Brain 1965;88: 313-22.","journal-title":"Brain"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1001\/archpedi.1969.02100030472016","article-title":"Myotonia, shortness of stature and hip dysplasia. Schwartz-Jampel syndrome","volume":"117","author":"Mereu, T.R.; Porter, I.H.; Hug, G.","year":"1969","unstructured":"Mereu TR, Porter IH, Hug G. Myotonia, shortness of stature and hip dysplasia. Schwartz-Jampel syndrome. Am J Dis Chlild 1969;117:470-8.","journal-title":"Am J Dis Chlild"},{"issue":"44","key":"ref_4","first-page":"945","article-title":"Osteo-chondro-muscular dystrophy. A disorder manifested by multiple skeletal deformities, myotonia, and dystrophic changes in muscle","volume":"1969","author":"Huttenlocher, P.R.; Landwirth, J.; Hanson, V.; Gallacher, B.B.; Bensch, K.","unstructured":"Huttenlocher PR, Landwirth J, Hanson V, Gallacher BB, Bensch K. Osteo-chondro-muscular dystrophy. A disorder manifested by multiple skeletal deformities, myotonia, and dystrophic changes in muscle. Pecliatrics 1969;44: 945-58.","journal-title":"Pecliatrics"},{"key":"ref_5","first-page":"93","article-title":"Schwartz syndrome associated with teeth and cardiac involvement","volume":"1","year":"1983","unstructured":"Mustacchi Z, Enge LGHB, Richieri-Costa A, FrotaPessoa 0. Schwartz syndrome associated with teeth and cardiac involvement. Rev, Bras Genet 1983;1:93-9.","journal-title":"Rev, Bras Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1016\/S0022-3476(72)80310-X","article-title":"Schwartz syndrome: myotonia with blepharophimosis and limitation of joints","volume":"81","author":"Saadat, M.H.","year":"1972","unstructured":"Saadat MH. Schwartz syndrome: myotonia with blepharophimosis and limitation of joints. J Pediatr 1972;81: 348-50.","journal-title":"J Pediatr"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1001\/archneur.1970.00480230073009","article-title":"Chondrodystrophic myotonia: report of two cases. Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities","volume":"22","author":"Aberfeld, D.C.; Namba, T.; Vye, M.V.; Grob, D.","year":"1970","unstructured":"Aberfeld DC, Namba T, Vye MV, Grob D. Chondrodystrophic myotonia: report of two cases. Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities. Arch Nelurol 1970;22:455-62.","journal-title":"Arch Nelurol"},{"key":"ref_8","first-page":"1777","volume":"6","author":"Cordeiro-Ferreira, N.; Gomes da Costa, M.G.; de Schwartz, Marques D.A.Sindrome","year":"1973","unstructured":"Cordeiro-Ferreira N, Gomes da Costa MG, Marques DA. Sindrome de Schwartz. Bord Med 1973;6:1777-86.","journal-title":"Bord Med"},{"key":"ref_9","first-page":"127","article-title":"The SchwartzJampel syndrome: its clinical, physiological and histological expression","volume":"22","author":"Fowler, W.M.; Layzer, R.B.; Taylor, R.G.","year":"1974","unstructured":"Fowler WM, Layzer RB, Taylor RG, et al. The SchwartzJampel syndrome: its clinical, physiological and histological expression. J Neiurol Sci 1974;22:127-46.","journal-title":"J Neiurol Sci"},{"key":"ref_10","first-page":"71","article-title":"The Schwartz syndrome in Southern Africa. Clin Genet 1973; 4: 548-55. Van Huffelen AC, Gabreels FJM, Van Luypen","volume":"5","author":"Beighton, P.","year":"1974","unstructured":"Beighton P. The Schwartz syndrome in Southern Africa. Clin Genet 1973;4:548-55. Van Huffelen AC, Gabreels FJM, Van Luypen JS, et al. Chondrodystrophic myotonia. Neuropaediatrie 1974;5: 71-90.","journal-title":"JS, et al. Chondrodystrophic myotonia. 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