Neill Shane C O, Murphy Colin G, McElwain John P
Department of Orthopaedics, The Adelaide and Meath Hospital Incorporating the National Children's Hospital, Tallaght, Dublin, Ireland.
J Med Case Rep. 2012 Jul 16;6:196. doi: 10.1186/1752-1947-6-196.
Nail patella syndrome is a rare autosomal dominant hereditary condition, with an incidence of 22 per million in the United Kingdom. The syndrome's most common features include iliac horns, hypoplastic patella and nail dysplasia.
We report the case of a 26-year-old Caucasian man with nail patella syndrome who sustained a fracture of his right hypoplastic patella after a fall. His right knee became swollen and he was unable to extend against gravity immediately post fall. Radiographs revealed a fracture of the lower pole of his right patella with associated complete disruption of the extensor mechanism of the knee. He underwent operative fixation and his post operative course was uneventful. He was further treated post operatively with a full knee cast and graded immobilization. At six months he had regained the full range of motion at the knee joint.
To the best of our knowledge, this is the only case report in the literature describing a patella fracture in an individual with nail patella syndrome. We hypothesize that given the extent of pre-existing knee joint impairment in these individuals, functional outcome may be inferior, suggesting the need for more frequent follow-up.
指甲髌骨综合征是一种罕见的常染色体显性遗传病,在英国发病率为百万分之二十二。该综合征最常见的特征包括髂骨角、髌骨发育不全和指甲发育异常。
我们报告一例26岁患有指甲髌骨综合征的白人男性病例,其在跌倒后右髌骨发育不全处发生骨折。跌倒后他的右膝立即肿胀,无法主动伸直。X线片显示右髌骨下极骨折,伴有膝关节伸肌机制完全断裂。他接受了手术固定,术后过程顺利。术后他继续接受全膝关节石膏固定及分级制动治疗。六个月时,他膝关节的活动范围已完全恢复。
据我们所知,这是文献中唯一一篇描述指甲髌骨综合征患者髌骨骨折的病例报告。我们推测鉴于这些个体膝关节已有损伤的程度,功能预后可能较差,这表明需要更频繁的随访。