{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T19:40:39Z","timestamp":1782589239930,"version":"3.54.5"},"reference-count":15,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1991,5]]},"abstract":"<jats:p>Acute infantile spinal muscular atrophy (SMA type I, Werdnig-Hoffmann disease) has generally been accepted as an autosomal recessive disorder. However, several investigators have noted a slightly increased male to female ratio. We describe here a family with two affected male sibs who had a form of acute infantile SMA with congenital bone fractures, whose parents were first cousins. Pedigree analysis strongly suggested autosomal recessive inheritance, but X linked recessive inheritance could not be ruled out. In view of the heterogeneity of the SMAs, and the distinct clinical features found in our patients, we suggest that their infantile SMA might well be a distinct entity. We suggest that SMA I with congenital contractures and bone fractures appears to be a recognisable disorder that can be distinguished from the more common classic form of SMA I.<\/jats:p>","DOI":"10.1136\/jmg.28.5.345","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"345-348","source":"Crossref","is-referenced-by-count":35,"title":["Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome."],"prefix":"10.1136","volume":"28","author":[{"given":"Z","family":"Borochowitz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Glick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Blazer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1991,5,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1136\/jmg.8.4.481","article-title":"The nosology of the spinal muscular atrophies","volume":"8","author":"Emery, A.E.H.","year":"1971","unstructured":"Emery AEH. The nosology of the spinal muscular atrophies. Med Genet 1971;8:481-95.","journal-title":"Med Genet"},{"key":"ref_2","article-title":"Mendelian inheritance in man: catalog of autosomal dominant, autosomal recessive and X-linked phenotypes","author":"McKusick, V.A.","year":"1989","unstructured":"McKusick VA. Mendelian inheritance in man: catalog of autosomal dominant, autosomal recessive and X-linked phenotypes. 7th ed. Baltimore: Johns Hopkins University Press, 1989.","edition":"7th ed"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/0022-510X(76)90141-6","article-title":"International collaboration study of the spinal muscular atrophies. II. Analysis of genetic data","volume":"30","author":"Emery, A.E.H.; Davie, A.M.; Holloway, S.","year":"1976","unstructured":"Emery AEH, Davie AM, Holloway S, et al. International collaboration study of the spinal muscular atrophies. II. Analysis of genetic data. Neurol Sci 1976;30:375-84.","journal-title":"Neurol Sci"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1136\/jmg.15.6.414","article-title":"Genetic studies of acute infantile spinal muscular atrophy (SMA type I): an analysis of sex ratio, segregation ratios, and sex influence","volume":"15","author":"Pearn, J.A.","year":"1978","unstructured":"Pearn JA. Genetic studies of acute infantile spinal muscular atrophy (SMA type I): an analysis of sex ratio, segregation ratios, and sex influence. Med Genet 1978;15:414-7.","journal-title":"Med Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1111\/j.1651-2227.1947.tb03712.x","article-title":"A case of arthrogryposis multiplex congenita anatomically appearing as a foetal spinal muscular atrophy","volume":"34","author":"Brandt, S.","year":"1947","unstructured":"Brandt S. A case of arthrogryposis multiplex congenita anatomically appearing as a foetal spinal muscular atrophy. Arch Paediatr Scand 1947;34:365-81.","journal-title":"Arch Paediatr Scand"},{"issue":"1","key":"ref_6","first-page":"203","article-title":"Familiare arthrogryposis multiplex congenita: neuro-arthro-myodysplasia congenital","volume":"1960","author":"Frischknecht, W.; Branchi, L.; Pillerie, G.","unstructured":"Frischknecht W, Branchi L, Pillerie G. Familiare arthrogryposis multiplex congenita: neuro-arthro-myodysplasia congenital. Helv Paediatr Acta 1960;1S:203-9.","journal-title":"Helv Paediatr Acta"},{"issue":"104","key":"ref_7","first-page":"479","article-title":"Etude anatomique d'un cas d'arthrogrypose multiple congenitale et familiale","volume":"1961","author":"Bargeton, E.; Nezelof, C.; Guran, P.","unstructured":"Bargeton E, Nezelof C, Guran P, et al. Etude anatomique d'un cas d'arthrogrypose multiple congenitale et familiale. Rev Neurol 1961;104:479-89.","journal-title":"Rev Neurol"},{"key":"ref_8","first-page":"193","article-title":"Atrophie musculorum spinalis pseudomyopathica. Hereditare neurogene proximale Amyotrophie von Kugelberg und Velander","volume":"37","author":"Becker, P.E.","year":"1964","unstructured":"Becker PE. Atrophie musculorum spinalis pseudomyopathica. Hereditare neurogene proximale Amyotrophie von Kugelberg und Velander. Z Mench Vererb Konstit Lehre 1964;37:193-220.","journal-title":"Z Mench Vererb Konstit Lehre"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1111\/j.1399-0004.1986.tb00586.x","article-title":"Unusual pedigree patterns in seven families with SMA: further evidence for the allelic model hypothesis","volume":"30","author":"Bouwsna, G.; Leschot, N.J.","year":"1986","unstructured":"Bouwsna G, Leschot NJ. Unusual pedigree patterns in seven families with SMA: further evidence for the allelic model hypothesis. Clin Genet 1986;30:145-9.","journal-title":"Clin Genet"},{"issue":"60","key":"ref_10","first-page":"279","article-title":"Kleine Mitteilinung: Uber atonisch-sklerotisch muskeldystrophie (Typ Ulirich)","volume":"1938","author":"Stoeber, E.","unstructured":"Stoeber E. Kleine Mitteilinung: Uber atonisch-sklerotisch muskeldystrophie (Typ Ulirich). Z Kinderheilkd 1938;60: 279-84.","journal-title":"Z Kinderheilkd"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1093\/brain\/80.3.319","volume":"80","author":"Banker, B.Q.; Victor, M.; Adams, R.D.","year":"1957","unstructured":"Banker BQ, Victor M, Adams RD. Arthrogryposis multiplex. Brain 1957;80:319-34.","journal-title":"Arthrogryposis multiplex. Brain"},{"key":"ref_12","first-page":"172","article-title":"Arthrogryposis multiplex congenita with Pierre Robin syndrome. Ind j Pediatr 1961; 28","author":"Ramakumar, L.; Sood, S.C.","unstructured":"Ramakumar L, Sood SC. Arthrogryposis multiplex congenita with Pierre Robin syndrome. Ind j Pediatr 1961;28:172-3."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1212\/WNL.13.6.526","article-title":"Congenital muscular dystrophy","volume":"13","author":"Short, J.K.","year":"1963","unstructured":"Short JK. Congenital muscular dystrophy. Neurology 1963;13: 526-30.","journal-title":"Neurology"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1136\/adc.48.6.425","article-title":"Acute Werdnig-Hoffmann's disease","volume":"48","author":"Pearn, J.H.; Wilson, J.","year":"1973","unstructured":"Pearn JH, Wilson J. Acute Werdnig-Hoffmann's disease. Arch Dis Child 1973;48:425-30.","journal-title":"Arch Dis Child"},{"key":"ref_15","first-page":"217","article-title":"X-linked infantile spinal atrophy","volume":"142","author":"Greenberg, F.; Fenolio, K.R.; Heitmanick, J.F.","year":"1988","unstructured":"Greenberg F, Fenolio KR, Heitmanick JF, et al. X-linked infantile spinal atrophy. Am Dis Child 1988;142:217-9.","journal-title":"Am Dis Child"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.28.5.345","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:33:59Z","timestamp":1760722439000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.28.5.345"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,5]]},"references-count":15,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1991,5,1]]},"published-print":{"date-parts":[[1991,5]]}},"alternative-id":["10.1136\/jmg.28.5.345"],"URL":"https:\/\/doi.org\/10.1136\/jmg.28.5.345","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,5]]}}}