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THE NAIL‐PATELLA SYNDROME
Author(s) -
Pearce Robert L.
Publication year - 1970
Publication title -
medical journal of australia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 131
eISSN - 1326-5377
pISSN - 0025-729X
DOI - 10.5694/j.1326-5377.1970.tb116679.x
Subject(s) - penetrance , medicine , expressivity , nail (fastener) , elbow , patella , reiter's syndrome , dermatology , anatomy , biology , genetics , phenotype , arthritis , gene , materials science , metallurgy
The characteristic clinical features of the nail‐patella syndrome (hereditary onycho‐osteoarthrodysplasia, iliac horn syndrome) are presented In detail. These include nail, knee, elbow and pelvic dysplasias of ectodermal and mesodermal origin. Other inconstant features associated with the syndrome and their incidence are discussed. The relevant medical literature is reviewed. The first reported Australian family exhibiting features of the nail‐patella syndrome has been Investigated and documented. This is an hereditary syndrome transmitted as an autosomal dominant trait. The gene involved manifests variable expressivity and incomplete penetrance, and is known to be linked with the ABO blood‐group system.