{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:18:40Z","timestamp":1760833120141,"version":"build-2065373602"},"reference-count":15,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,3]]},"abstract":"<jats:p>The features of a child with osteogenesis imperfecta type III (OI III) resulting from the heterozygous substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen were studied. He was born at term with the clinical features of severe OI, including deep grey-blue sclerae. He had severe osteopenia and all long bones were smaller than normal with cortical thinning, metaphyseal expansion, poor metaphyseal modelling, and multiple fractures. However, the vertebrae, pelvis, and shoulder girdle were of normal shape and there were few rib fractures. Histological examination of the calvarium and tibial shaft showed woven bone without lamellar bone or Haversian systems. The shafts of the long bones were widened owing to repeated fractures. Progressive enlargement of the calvarium occurred between 3 and 4.5 months of age owing to bilateral chronic subdural haematomata and a large arachnoid cyst in the Sylvian fissure. The cyst was probably developmental in origin while the subdural collections were probably the result of perinatal skull trauma. The cyst and the subdural collections resolved following drainage but ventricular dilatation with normal cerebrospinal fluid pressure followed. The proband is the first reported case of OI with a glycine substitution by alanine in the pro alpha 2(I) chain of type I procollagen.<\/jats:p>","DOI":"10.1136\/jmg.33.3.193","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"193-196","source":"Crossref","is-referenced-by-count":13,"title":["Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen."],"prefix":"10.1136","volume":"33","author":[{"given":"W G","family":"Cole","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T P","family":"Lam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1996,3,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1136\/jmg.16.2.101","article-title":"Genetic heterogeneity in osteogenesis imperfecta","volume":"16","author":"Sillence, D.O.; Senn, A.; Danks, D.M.","year":"1979","unstructured":"Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. 7 Med Genet 1979;16:101-16.","journal-title":"7 Med Genet"},{"key":"ref_2","first-page":"821","article-title":"Osteogenesis imperfecta type III delineation of the phenotype with reference to genetic heterogeneity","volume":"23","author":"Sillence, D.O.; Barlow, K.K.; Cole, W.G.; Dietrich, S.; Garber, A.P.; Rimoin, D.L.","year":"1986","unstructured":"Sillence DO, Barlow KK, Cole WG, Dietrich S, Garber AP, Rimoin DL. Osteogenesis imperfecta type III delineation of the phenotype with reference to genetic heterogeneity. AmJrHum Genet 1986;23:821-32.","journal-title":"AmJrHum Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1136\/jmg.28.7.433","article-title":"Osteogenesis imperfecta: translation of mutation to phenotype","volume":"28","author":"Byers, P.H.; Wallis, G.A.; Willing, M.C.","year":"1991","unstructured":"Byers PH, Wallis GA, Willing MC. 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