A case report of an Irish family displaying nail-patella syndrome.
This is a case report of an Irish family displaying classical features of Nail-Patella Syndrome--also known as Osteo-onycho Dystrophy--involving four members over three generations. This rare autosomal dominant disorder is well defined with four classical characteristics: dysplasia of finger nails, hypoplastic or absent patellae, hypoplasia of the head of the radius and often the capitulum of the humerus leading to subluxation or dislocation of the radial head and iliac prominences, known as iliac horns which are usually bilateral and symmetrical. Renal dysfunction is also commonly reported. This is the first report of the Nail-Patella Syndrome in an Irish family.
Downey
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Trinity College Medical School, Saint James's Hospital, Dublin.
D006801:Humans; D007494:Ireland; D009261:Nail-Patella Syndrome / Q000175:diagnosis / Q000235:genetics*