Renal transplantation from a donor with a nail-patella syndrome. Scientific Publication

Nail–patella syndrome or hereditary osteo-onychodysplasia, is an autosomal dominant syndrome with variable expression and penetrance. It is characterized by hypoplasia or complete abscence of the patellae, dysplasia of the nailbeds, presence of iliac horns, elbow abnormalities, and sometimes renal disease.

The nail–patella syndrome was described by Little in 1897, who compiled 42 previously reported and personally studied cases of congenital absence of patellae.

CITATION Nephrol Dial Transplant. 1997 Aug;12(8):1742-4