以双髋关节脱位就诊的Kabuki综合征1例报告并文献综述  

Kabuki syndrome treated as bilateral hip dislocation:a case report and literature review

作　　者：吴志扬 王建嗣 郑国良 林秀明 李炳钻 WU Zhi-yang;WANG Jian-si;ZHENG Guo-liang;LIN Xiu-ming;LI Bing-zuan(Department of Rehabilitation,Quanzhou Orthopedic Traumatology Hospital,Quanzhou 362000,China;Department of Pediatric Orthopedics,Quanzhou Orthopedic Traumatology Hospital,Quanzhou 362000,China)

机构地区：[1]泉州市正骨医院康复科,福建泉州362000 [2]泉州市正骨医院小儿骨科,福建泉州362000

出　　处：《中国矫形外科杂志》2021年第24期2252-2256,共5页Orthopedic Journal of China

摘　　要：该文报道1例以双髋关节脱位就诊的Kabuki综合征患儿的诊治过程,并复习相关文献.患儿,男,5个月,以双髋关节脱位就诊,查体见双髋关节脱位,特殊面容,发育迟缓,皮纹异常,基因检测发现KMT2D基因突变,从而确诊Kabuki综合征.通过文献复习,国内基因确诊Kabuki综合征合并髋关节脱位发病率稍低于国外.国外文献中患者以女性多见,双髋常见,可合并髌骨脱位.保守治疗可成功复位,但容易出现再脱位.新生儿期行Pavlik吊带治疗,可取得满意效果.随病儿生长,单纯切开复位容易出现再脱位,Dega骨盆截骨术/不完全骨盆截骨合并股骨截骨术可获得更好的效果,少数术后合并髋周感染,并有一定几率发生股骨头缺血性坏死.This article reports the process of diagnosis and treatment in an infant who was initially treated for bilateral hip dislocation,and finally diagnosed of Kabuki syndrome,in addition,relative literatures were reviewed.This is a boy who in 5 months age was treated for bilateral hip dislocation due to physical examination abnormalities.However,this infant also had unusual facies,growth retardation,derma-toglyphic abnormalities.Subsequently,KMT2D gene mutation was found by gene detection,and then the boy was diagnosed of Kabuki syndrome.By reviewing literatures,the incidence of Kabuki syndrome combined with hip dislocation in China is slightly lower than that abroad.In foreign literature,most of the patients are female,usually bilateral hips involved,accompanied with patellar dislocation in some cases.Conservative treatment may be successful,however,the patient is at risk of re-dislocation.Pavlik harness treatment in the neonatal period achieved satisfactory results,whereas as the patient grows up,simple open reduction is prone to re-dislocation,pelvic osteotomy or incomplete periacetabular osteotomy combined with femoral osteotomy can achieve better results.A few patients will be found with postoperative infection around the hip,and there is a certain probability of ischemic necrosis of the femoral head.

关 键 词：髋关节脱位 Kabuki综合征 KMT2D基因 病例报道 

分 类 号：R687[医药卫生—骨科学]