An orthopaedic scoring system for nail-patella syndrome and application toa kindred with variable expressivity and glaucoma

To help determine whether there is a genetic basis to the substantial varia bility observed in nail-patella syndrome (NPS), we devised a scoring system that quantifies the severity of the orthopaedic characteristics in NPS. Us e of this system to score affected members in three generations of a single kindred revealed wide variability of severity of orthopaedic findings both within and between generations. Genetic testing in this family supported, but did not prove, a previously reported theory that the severity of the MP S in the offspring is by the allele contributed by the unaffected parent. E valuation nonorthopaedic characteristics revealed the presence of coma and the absence of kidney disease in this family. It important that patients wi th NPS be evaluated for renal and glaucoma.