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Table of Contents
Festschrift: Peter Beighton
| Cover | |
| Contents | |
| S1 |
| Preface | |
| S3 |
| Foreword | |
| Stuart Saunders, J P van Niekerk, Jacquie Greenberg, Alan Bryer, Lawrence X G Stephen | S4 |
| A true mentor and pioneer in medical genetics | |
| Michael Hayden | S7 |
| Using the skills of academic elders | |
| Judith Hall | S9 |
| A pillar of academic and research excellence: The enduring influence of mentorship in science | |
| Colin Soskolne | S12 |
| Osteogenesis imperfecta in southern Africa: Peter Beighton’s legacy | |
| David Sillence | S13 |
| From Africa and India to Blackpool: Military history and ambulance services | |
| Wim de Villiers | S19 |
| Peter Beighton on Rapa Nui (Easter Island), 1964 - 1965 | |
| Jacalyn Duffin | S21 |
| People and wildlife in the Tristan da Cunha islands | |
| Martin Holdgate | S23 |
| Tributes | |
| Frank T Horan, David N Hall, Steve Mannion, Donald Basel | S27 |
| Cytogenetics at the University of Cape Town: A 45-year journey | |
| R Smart, G Schutte, T Ruppelt, L J Greenberg | S29 |
| Inherited retinal disorders in South Africa and the clinical impact of evolving technologies | |
| L Roberts, R Goliath, G Rebello, S Bardien, A V September, L Bartmann, F Loubser, L J Greenberg, R S Ramesar | S33 |
| The hereditary ataxias: Where are we now? Four decades of local research | |
| D C Smith, L J Greenberg, A Bryer | S38 |
| Joint laxity in the performing arts | |
| H Bird | S42 |
| Ehlers-Danlos syndrome | |
| R Grahame | S45 |
| Pamidronate treatment for osteogenesis imperfecta in black South Africans | |
| B D Henderson, N Isaac, O Mabele, S Khiba, A Nkayi, T Mokoena | S47 |
| Thanatophoric dysplasia: A review | |
| H Wainwright | S50 |
| Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder | |
| E M Honey | S54 |
| Tributes | |
| Sean L Sellars, Herman Hamersma, Kazimierz Kozlowski, Ingrid Winship, Claudette Medefindt, Sol Zieff, Peter Bonafede, George Gericke, Denis L Viljoen | S59 |
| A possible heterozygous advantage in muscular dystrophy | |
| A E H Emery | S65 |
| Duchenne muscular dystrophy in the Western Cape, South Africa: Where do we come from and where are we going? | |
| A I Esterhuizen, L J Greenberg, R Ballo, R G Goliath, J M Wilmshurst | S67 |
| Bardet Biedl syndrome in South Africa: A single founder mutation | |
| K Fieggen, C Milligan, B Henderson, A I Esterhuizen | S72 |
| Cone opsins, colour blindness and cone dystrophy: Genotype-phenotype correlations | |
| J C Gardner, M Michaelides, A J Hardcastle | S75 |
| Interruption of enzyme replacement therapy in Gaucher disease | |
| J Goldblatt, J M Fletcher, J McGill, J Szer, M Wilson | S79 |
| predicted v. real prevalence of the 22q11.2 deletion syndrome in children with congenital heart disease presenting to Red Cross War Memorial Children’s Hospital, South Africa: A prospective study | |
| R De Decker, Z Bruwer, L Hendricks, M Schoeman, G Schutte, J Lawrenson | S82 |
| Interpreting genetic risks | |
| J Pearn | S87 |
| Osteogenesis imperfecta type III in South Africa: Psychosocial challenges | |
| L X G Stephen, T Roberts, E van Hayden, M Chetty | S90 |
| Dental needs of intellectualy disabled children attending six special educational facilities in Cape Town | |
| T Roberts, M Chetty, F Kimmie-Dhansay, K Fieggen, L X G Stephen | S94 |
| Hyperostosis in siblings | |
| J W Spranger, E Lausch | S98 |
| Osteoporosis-pseudoglioma syndrome in South Africa | |
| M Chetty, L X G Stephen, T Roberts | S100 |
| Fetal alcohol spectrum disorders: Prevalence rates in South Africa | |
| L Olivier, L M G Curfs, D L Viljoen | S103 |
| Spinocerebellar ataxia type 7 in South Africa: Epidemiology, pathogenesis and therapy | |
| L Watson, D C Smith, J Scholefield, R Ballo, S Kidson, L J Greenberg, M J A Wood | S107 |
| Pyle metaphyseal dysplasia in an African child: Case report and review of the literature | |
| A Wonkam, N Makubalo, T Roberts, M Chetty | S110 |
| Application of advanced molecular technology in the diagnosis and management of genetic disorders in South Africa | |
| M Kotze | S114 |
| Evaluating the contribution of APOBEC3G haplotypes, on influencing HIV infection in a Zimbabwean paediatric population | |
| K Mhandire, K Duri, D Mhandire, C Musarurwa, B Stray-Pedersen, C Dandara | S119 |
| Tributes | |
| Richard Burman, J Scholefield, Lucia Bartmann | S124 |
| Acknowledgements from the Editorial Team | |
| J Greenberg | S126 |