Soutar, William Alexander

2019-02-15T14:22:56Z

2019-02-15T14:22:56Z

1964

A brief historical outline of the gradual recognition of hereditary onycho-osteodysplasia has been given.

The investigation of a further family, 3 members of which exhibit changes characteristic of the nail -patella syndrome, has been described.

Forty -four families exhibiting hereditary onycho- osteodysplasia have been collected from the world literature, the whole series comprising over 400 affected persons, details being available, however, for only 252 of these. The manifestationsof the syndrome in the latter group have been analysed in order to find the relative incidence of the individual anomalies comprising the syndrome, and of the different combinations in which they occur. It has been suggested that the pelvic anomalies occur much more frequently than has previously been believed.

An account has also been given of various other abnormalities which have from time to time been reported as occurring in association with the nail -patella syndrome and an attempt has been made to classify these and determine their true relationship to the syndrome itself. The present author's opinion is that, with the exception of a few associated hereditary anomalies which may possibly exhibit "linkage" with the main syndrome, the other subsidiary lesions are almost certainly coincidental.

Finally, a brief account has been given of what is known of the genetic factors involved in the transmission of the syndrome. Evidence has also been presented that there are strong grounds for believing that the anomaly has arisen as a spontaneous mutation in the family reported in this article.

http://hdl.handle.net/1842/34050

The University of Edinburgh

Annexe Thesis Digitisation Project 2019 Block 22

Hereditary onycho-osteodysplasia survey of a family exhibiting this syndrome and review of the literature

Thesis or Dissertation

Doctoral

MD Doctor of Medicine