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These had characteristic broad, crumpled femora and beaded ribs in skeletal x-rays. Autosomal recessive inheritance was likely for some, if not all, of these cases. A third group, two thirds of whom had fractures at birth, showed severe progressive deformity of limbs and spine. The density of scleral blueness appeared less than that seen in the first group of patients and approximated that seen in normal children and adults. Moreover, the blueness appeared to decrease with age. All patients in this group were sporadic cases. The mode of inheritance was not resolved by the study, but it is likely that the group is heterogeneous with both dominant and recessive genotypes responsible for the syndrome. The fourth group of patients showed dominant inheritance of osteoporosis leading to fractures, with variable deformity of long bones, but normal sclerae.<\/jats:p>","DOI":"10.1136\/jmg.16.2.101","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"101-116","source":"Crossref","is-referenced-by-count":1777,"title":["Genetic heterogeneity in osteogenesis imperfecta."],"prefix":"10.1136","volume":"16","author":[{"given":"D O","family":"Sillence","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Senn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D M","family":"Danks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1979,4,1]]},"reference":[{"key":"ref_1","first-page":"18101812","article-title":"Osteogenesis imperfecta-a case report","volume":"4","author":"Adaita, M.D.","year":"1957","unstructured":"Adaita, M. 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