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Forty\u2010eight cases were reviewed and can be subdivided into 3 groups on the basis of small but probably significant differences in clinical and radiographic findings. Group A (38 cases): short, broad, \u201ccrumpled\u201d long bones, angulation of tibiae and continuously beaded ribs. Group B (6 cases): short, broad, crumpled femora, angulation of tibiae but normal ribs or ribs with incomplete beading. Group C (4 cases): long, thin, inadequately modelled, rectangular long bones with multiple fractures and thin beaded ribs. Consistency of findings within sibships suggests the groups reflect genetic heterogeneity.<\/jats:p><jats:p>An increased frequency of parental consanguinity, sib occurrence with normal parents, and normal mean paternal age at birth, suggest that most cases of O.I. type II represent autosomal recessive traits.<\/jats:p><jats:p>Some previously reported cases and the biochemical findings in one case suggest still further genetic heterogeneity.<\/jats:p>","DOI":"10.1002\/ajmg.1320170204","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:35:32Z","timestamp":1118518532000},"page":"407-423","source":"Crossref","is-referenced-by-count":170,"title":["Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity"],"prefix":"10.1002","volume":"17","author":[{"given":"D. O.","family":"Sillence","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. 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