Nail-patella syndrome: "nailing" the diagnosis in three generations.

ABSTRACT

Nail-patella syndrome (NPS) is a hereditary disorder characterized by fingernail changes, elbow dysplasia, hypoplastic patellae, and presence of iliac horns. Clinical presentation can be subtle, and the spectrum of presentation often makes NPS a challenging diagnosis. Herein, we describe three family members with nail-patella syndrome who presented with different features and varying severity. The opportunity to recognize this rare syndrome in three linear generations provided a unique insight into NPS, and a moment to appreciate the random and unpredictable clinical presentation.