Ehlers‐Danlos syndrome and cutis laxa: an account of families in the Oxford area

Summary Eight families of Ehlers‐Danlos syndrome containing sixty‐five cases are described. Of these thirty‐four patients were seen and examined personally. The clinical picture in these individuals is discussed in relationship to the previous literature. Particular attention was paid to cardiovascular findings and electrocardiographic examination. It is suggested that incomplete right bundle branch block is unusually frequent in Ehlers‐Danlos. It is shown that Ehlers‐Danlos syndrome is a dominant trait with variable manifestation. The two families with cutis laxa are of interest in that although the clinical manifestation is very similar, in one a father and daughter were similarly affected and in the other the unaffected parents of two affected children were descended from a common ancestor who may have manifested the trait. The occurrence of incomplete right bundle branch block is recorded in a child suffering from the cutis laxa syndrome. I am grateful to Dr A. C. Stevenson of the Population Genetics Research Unit for providing me with guidance, supervision, advice and essential facilities in this work. Miss R. Mason, S.R.N., of the same unit, accompanied me on all my family visiting and sustained me by her interest and enthusiasm. My thanks are due also to Dr H. T. Calvert, Dr J. J. Kempton, Dr Victoria Smallpeice, Dr D. S. Wilkinson and Mr J. Peet who permitted me to see their cases and investigate the families. Dr J. M. Evanson of the Nuffield Department of Clinical Medicine was kind enough to interpret the electrocardiographic findings for me. I must also record my thanks to the World Health Organization for the Fellowship which enabled me to work in Oxford and to Professor Kesic who granted me leave of absence from the ‘Andrija Stampar’ School of Public Health.