1887

n South African Medical Journal - Osteogenesis imperfecta in southern Africa : Peter Beighton's legacy : legacy

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Abstract

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 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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/content/m_samj/106/sup-1/EJC190751
2016-06-01
2016-12-05
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