Lykissas Marios G, Sturm Peter F, McClung Anna, Sucato Daniel J, Riordan Mary, Hammerberg Kim W
*Division of Orthopaedic Surgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH †Department of Orthopaedic Surgery, Scottish Rite Hospital for Children, Dallas, TX ‡Department of Orthopaedic Surgery, Shriners Hospitals for Children, Chicago, IL.
J Pediatr Orthop. 2013 Oct-Nov;33(7):685-93. doi: 10.1097/BPO.0b013e31829e86a9.
Chondrodysplasia punctata (CDP) is a common manifestation of an etiologically heterogenous group of disorders. There is very little data regarding the development and management of spinal deformity in patients with CDP. The purpose of this study was to present a multicenter series of CDP, to describe the surgical outcomes of spinal deformities in CDP patients and to emphasize important considerations that may influence choice of surgical treatment of spinal deformity in this patient population.
The medical records and spinal radiographs of patients with the diagnosis of CDP followed in 2 centers between 1975 and 2011 were retrospectively reviewed. Epiphyseal stippling was present on radiographs in all patients who fulfilled the clinical criteria.
Among the 17 patients who were diagnosed with CDP, 13 had spinal deformities. The mean age at diagnosis of spinal deformity was 14.6 months (range, 1 wk to 9 y). Males and females were close to equally represented (10 males and 7 females). Twelve patients (92%) required surgery to correct spinal deformity. Patients were followed for a median of 8.4 years (range, 2.8 to 19.5 y). The total number of surgical procedures performed was 17 averaging 1.5 per patient. Four patients required >1 procedure. Eighty percent of the patients who required >1 surgical procedure were females with probable diagnosis of X-linked dominant CDP. Revision surgery was indicated in 50% of the patients treated with combined anterior and posterior fusion and 20% of the patients treated with posterior fusion alone.
Spinal deformity in CPD patients may range from significant kyphoscoliosis to minimal deformity that does not require any treatment. For those patients in whom spine surgery was indicated, a high incidence of revision surgery and curve progression after fusion was recorded. Female patients with probable diagnosis of X-linked dominant CDP were more likely to require a second surgical procedure. Isolated posterior fusion showed less favorable results compared with combined anteroposterior fusion in terms of revision surgery.
Level IV-therapeutic study.
点状软骨发育不良（CDP）是一组病因异质性疾病的常见表现。关于CDP患者脊柱畸形的发生和治疗的数据非常少。本研究的目的是呈现一个多中心的CDP系列病例，描述CDP患者脊柱畸形的手术结果，并强调可能影响该患者群体脊柱畸形手术治疗选择的重要考虑因素。
回顾性分析1975年至2011年间在2个中心随访的诊断为CDP患者的病历和脊柱X线片。所有符合临床标准的患者X线片上均有骨骺点状钙化。
在17例诊断为CDP的患者中，13例有脊柱畸形。脊柱畸形诊断时的平均年龄为14.6个月（范围，1周龄至9岁）。男性和女性的比例相近（10例男性和7例女性）。12例患者（92%）需要手术矫正脊柱畸形。患者的中位随访时间为8.4年（范围，2.8至19.5年）。总共进行了17次手术，平均每位患者1.5次。4例患者需要进行>1次手术。需要进行>1次手术的患者中80%为女性，可能诊断为X连锁显性CDP。50%接受前后联合融合治疗的患者和20%仅接受后融合治疗的患者需要翻修手术。
CPD患者的脊柱畸形范围可从严重的脊柱侧后凸到无需任何治疗的轻微畸形。对于那些需要进行脊柱手术的患者，翻修手术的发生率较高，且融合后有曲线进展。可能诊断为X连锁显性CDP的女性患者更有可能需要二次手术。就翻修手术而言，单纯后融合与前后联合融合相比效果较差。
IV级-治疗性研究。
