Karatas Ali F, Bober Michael B, Rogers Kenneth, Duker Angela L, Ditro Colleen P, Mackenzie William G
Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE.
J Pediatr Orthop. 2014 Sep;34(6):585-90. doi: 10.1097/BPO.0000000000000183.
Majewski osteodysplastic primordial dwarfism type II (MOPDII) is characterized by severe prenatal and postnatal growth failure with microcephaly, characteristic skeletal dysplasia, an increased risk for cerebrovascular disease, and insulin resistance. MOPDII is caused by mutations in the pericentrin (PCNT) gene and is inherited in an autosomal-recessive manner. This study aimed to determine the incidence of hip pathology in patients with molecularly confirmed MOPDII and to describe the functional outcomes of surgical treatment.
Thirty-three enrolled patients had a clinical diagnosis of MOPDII. Biallelic PCNT mutations or absent pericentrin protein was confirmed in 25 of these patients. Twelve patients (7 female) had appropriate clinical and radiographic records at this institution and were included in this study. The data collected included age at presentation, age at surgery, sex, body weight and height, weight-bearing status at diagnosis, and the clinical examination.
Four patients (31%) had coxa vara: 3 unilateral and 1 bilateral. Three unilateral patients had in situ pinning at a mean age 4 years. The patient with bilateral coxa vara had valgus osteotomy at the age of 5 years. Two children had bilateral hip dysplasia and subluxation with no surgery. One patient had bilateral developmental hip dislocations. The patient was treated by open reduction-spica cast and 2 years after surgery, coxa valga was noted. Another patient was diagnosed at an age of 12 years with bilateral avascular necrosis of the hips. Four patients did not have hip pathology.
Hip pathology is common among children with MOPDII; coxa vara is the most frequent diagnosis. Routine clinical and radiographic hip evaluation is important. The capital femoral epiphysis appears to slip down along the shaft, giving the appearance of a proximal femoral epiphysiolysis. A hip diagnosed with slipped capital femoral epiphysis in early life may progress to severe coxa vara.
Level IV.
II型Majewski骨发育不全性原发性侏儒症（MOPDII）的特征为严重的产前和产后生长发育迟缓，伴有小头畸形、特征性骨骼发育异常、脑血管疾病风险增加以及胰岛素抵抗。MOPDII由中心体蛋白（PCNT）基因突变引起，呈常染色体隐性遗传。本研究旨在确定分子确诊的MOPDII患者中髋部病变的发生率，并描述手术治疗的功能结果。
33例登记患者临床诊断为MOPDII。其中25例患者证实存在双等位基因PCNT突变或中心体蛋白缺失。12例患者（7例女性）在本机构有合适的临床和影像学记录，纳入本研究。收集的数据包括就诊年龄、手术年龄、性别、体重和身高、诊断时的负重状态以及临床检查。
4例患者（31%）存在髋内翻：3例单侧，1例双侧。3例单侧患者平均4岁时行原位穿针固定术。双侧髋内翻患者5岁时行外翻截骨术。2例儿童双侧髋关节发育不良并半脱位，未接受手术。1例患者双侧发育性髋关节脱位。该患者接受切开复位髋人字石膏固定治疗，术后2年出现髋外翻。另1例患者12岁时诊断为双侧股骨头缺血性坏死。4例患者无髋部病变。
髋部病变在MOPDII儿童中很常见；髋内翻是最常见的诊断。常规的临床和影像学髋部评估很重要。股骨头骨骺似乎沿骨干下滑，呈现近端股骨骺溶解的表现。早年诊断为股骨头骨骺滑脱的髋关节可能进展为严重的髋内翻。
IV级。
