Lovelace Parker D., May Lauren A.
San Antonio Military Medical Center
Nail-patella syndrome (NPS), also known as Fong disease or hereditary onycho-osteodysplasia, is a rare multisystemic disease with a classic clinical tetrad of fingernail dysplasia, hypoplasia or absence of the patella, presence of iliac horns, and elbow deformities, although ocular, renal, and neurological involvement exists as well. Dr. E. M. Little first described the phenotype and hereditary nature of what would later become NPS in 1897. However, it was not until the mid 20th century that the autosomal dominant inheritance pattern, as well as the condition's genetic penetration, was discovered. NPS can be clinically diagnosed with the characteristic physical exam and radiological imaging findings, although genetic testing and even renal biopsy assist in diagnosis confirmation. Although the prognosis for this condition is good, serious complications exist, and as a result, management recommendations have been proposed.
指甲-髌骨综合征（NPS），也称为方氏病或遗传性甲-骨发育不良，是一种罕见的多系统疾病，具有典型的临床四联征，即指甲发育异常、髌骨发育不全或缺失、髂骨角的存在以及肘部畸形，尽管也存在眼部、肾脏和神经系统受累情况。1897年，E.M.利特尔博士首次描述了后来被称为NPS的表型和遗传性质。然而，直到20世纪中叶才发现其常染色体显性遗传模式以及该疾病的基因外显率。NPS可通过特征性的体格检查和放射影像学检查结果进行临床诊断，尽管基因检测甚至肾活检有助于确诊。虽然这种疾病的预后良好，但仍存在严重并发症，因此，已提出了管理建议。
