Sitaula Saroj, Sitaula Sabina, Khadka Pragati, Adhikari Roshna
Department of Radiology, National Academy of Medical Sciences, Bir Hospital, Kathmandu, Nepal.
Department of Dermatology, National Academy of Medical Sciences, Bir Hospital, Kathmandu, Nepal.
Radiol Case Rep. 2024 Jul 27;19(10):4327-4330. doi: 10.1016/j.radcr.2024.06.058. eCollection 2024 Oct.
Nail-patella syndrome (NPS) is a rare autosomal dominant pleiotropic disorder characterized by dysplasia of the nails, patellar aplasia or hypoplasia, iliac horns and dysplasia of the elbows. We present a case of a 56-year-old female presenting with bilateral knee pain, where initial radiographic findings of hypoplastic patellae prompted further investigation, revealing characteristic skeletal anomalies consistent with NPS. This case underscores the importance of recognizing radiological clues and conducting thorough clinical evaluation to diagnose rare genetic conditions such as NPS.
指甲-髌骨综合征（NPS）是一种罕见的常染色体显性多效性疾病，其特征为指甲发育异常、髌骨发育不全或发育不良、髂骨角以及肘部发育异常。我们报告一例56岁女性，因双侧膝关节疼痛就诊，最初的X线检查发现髌骨发育不全，促使进一步检查，结果显示存在与指甲-髌骨综合征相符的特征性骨骼异常。该病例强调了识别放射学线索并进行全面临床评估以诊断诸如指甲-髌骨综合征等罕见遗传病的重要性。
