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NAIL‐PATELLA SYNDROME: CLINICAL AND LINKAGE DATA ON FAMILY G
Author(s) -
JAMESON By R. J.,
LAWLER SYLVIA D.,
RENWICK J. H.
Publication year - 1956
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.1955.tb01290.x
Subject(s) - homecoming , medicine , anatomy , history , art history
Summary Evidence for linkage between the ABO and nail‐patella loci has again been found in a large family and the recombination value of 10% is in agreement with the previous estimate. Clinical data are presented and a study has been made of the proteinuria which occurs in a few members of the family. The radiological data include evidence that in the elbow deformity, the increaeed length of the radius when present is the result rather than the cause of the hypoplasia of the capitellum. We are grateful to Dr J. A. Fraeer Roberts for the introductions which made this paper poeeible and to Dr A. C. P. D. Thomson who kindly undertook the radiological work. We are indebted to Dr A. E. Mourant for most of the anti‐sera used, and to Drs D. Lehane and P. L. Mollison for supplies of anti‐ Fyα Pya serum. Drs G. K. McGowan and J. E. Cates very kindly investigated the renal function of one of our patients, and it is also a pleasure to express our appreciation of the work of Miss Margaret Welch whose mistance was indispensable. Finally, not a single member of the family failed to respond to our requests.