n South African Medical Journal - Osteogenesis imperfecta in southern Africa : Peter Beighton's legacy : legacy
|Article Title||Osteogenesis imperfecta in southern Africa : Peter Beighton's legacy : legacy|
|© Publisher:||Health and Medical Publishing Group (HMPG)|
|Journal||South African Medical Journal|
|Affiliations||1 University of Sydney, Australia and 2 Sydney Children's Hospital Network, Australia|
|Publication Date||Jun 2016|
|Pages||13 - 18|
When Peter Beighton (PB) took up a fellowship at the Johns Hopkins University Hospital in 1968-1969, with Dr Victor McKusick, the 4th edition of Heritable Disorders of Connective Tissue was in preparation. PB had already concluded that Ehlers-Danlos syndrome (EDS) was a group of disorders with distinct but overlapping phenotypes and genotypes. McKusick extensively acknowledged the contribution which PB had made to delineating the heterogeneity in EDSs in Chapter 6. In Chapter 7 of the same volume, McKusick reviewed the knowledge about osteogenesis imperfecta (OI) and noted that 'the exceptionally wide range of expressivity in OI may be but different expressions of a single type of connective tissue disorder, inherited as a Mendelian autosomal dominant disorder. However, the existence of an infrequent autosomal recessive form ... is quite certain'.
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