Nail-Patella Syndrome: A Case Series From Northern India

The nail-patella syndrome (NPS) is an uncommon entity with a characteristic set of anomalies. The presence of classical tetrad of hypoplastic or absent fingernails, hypoplastic or absent patellae, bilateral iliac horns and varying grades of elbow deformities are well elucidated in the literature. The spectrum of clinical manifestation varies, resulting in very few cases presenting to the healthcare facility or being diagnosed appropriately. We, hereby, describe our experience of three separate cases of the NPS, diagnosed on clinical and radiological basis. All cases were diagnosed incidentally and none presented to us for consultation regarding the anomalies due to this disorder. In one of the cases, a young girl was managed medically for an associated abdominal complaint. Her father was also found with the clinical features of the disorder thus making the father-daughter duo, part of our series. One case presenting with a femur fracture was managed with fracture fixation surgery leading to an uneventful healing of fracture. There was neither a history of any other family member having similar anomalies nor other systemic disorders in all three cases. Knowledge of the condition may help in improving the diagnosis of NPS and enrich the medical literature.