PDF(Pubmed)
Abstract：
Stickler syndrome is a multisystem connective tissue disorder caused by mutations in collagen genes that can present with craniofacial, ocular, audial, or skeletal abnormalities. Here, we report on a male patient with a COL2A1 missense mutation (c.647G>A; p.Gly216Asp). He complained of an out-toeing gait and restricted hip mobility. Radiographs showed broad and elongated femoral necks with coxa valga. An alpha angle of 119° and 96° for his left and right femur, respectively, and almost no femoral head-neck offset, suggested a femoroacetabular impingement. Considering the patient\'s unwillingness to receive a total hip replacement for his Tönnis grade 2 hips, we intended to establish impingement-free hips by causing minimizing trauma. Therefore, we performed an osteochondroplasty of femoral head-neck junction and gluteal muscle release without correcting coxa valgus through the surgical hip dislocation approach. The range of motion of his hips improved as the surgery restored the femoral head-neck offset. However, the patient experienced a sense of lower limb length disparity and hip instability, which might be caused by his uncorrected proximal femoral deformity. This case presents the previously unreported phenotypic features of a COL2A1 mutation G216D. Orthopedic surgeons should consider genetic disorders when confronting atypical abnormalities. Moreover, the primary deformity should be corrected in hip preservation surgeries. Insufficient deformity correction might contribute to unsatisfactory surgical outcomes.
摘要：
Stickler综合征是一种由胶原基因突变引起的多系统结缔组织疾病，眼,听觉，或者骨骼异常.这里,我们报道了一名COL2A1错义突变的男性患者(c.647G>A;p.Gly216Asp)。他抱怨步态异常和髋关节活动受限。射线照片显示股骨颈宽而细长，并伴有coxavalga。左股骨和右股骨的α角分别为119°和96°，分别,几乎没有股骨头颈偏移，提示股骨髋臼撞击。考虑到患者不愿接受Tönis2级髋关节的全髋关节置换术，我们打算通过最小化创伤来建立无撞击的臀部。因此,我们通过手术髋关节脱位入路进行了股骨头-颈交界处骨软骨成形术和臀肌松解术,但未矫正髋骨外翻.随着手术恢复股骨头颈偏移，他的臀部运动范围有所改善。然而,患者经历了下肢长度不一致和髋关节不稳定的感觉，这可能是他未矫正的股骨近端畸形造成的.该病例呈现先前未报道的COL2A1突变G216D的表型特征。面对非典型异常时，骨科医师应考虑遗传性疾病。此外，原发性畸形应在保留髋关节手术中予以矫正。畸形矫正不足可能导致手术效果不理想。
