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Abstract：
Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems. However, the frequency of many clinical features has never been determined. We retrospectively investigated the clinical, radiological, and genotypic data in a group of 93 patients with molecularly confirmed SEDC or a related disorder. The majority of the patients (80/93) had short stature, with radiological features of SEDC (n = 64), others having SEMD (n = 5), Kniest dysplasia (n = 7), spondyloperipheral dysplasia (n = 2), or Torrance-like dysplasia (n = 2). The remaining 13 patients had normal stature with mild SED, Stickler-like syndrome or multiple epiphyseal dysplasia. Over 50% of the patients had undergone orthopedic surgery, usually for scoliosis, femoral osteotomy or hip replacement. Odontoid hypoplasia was present in 56% (95% CI 38-74) and a correlation between odontoid hypoplasia and short stature was observed. Atlanto-axial instability, was observed in 5 of the 18 patients (28%, 95% CI 10-54) in whom flexion-extension films of the cervical spine were available; however, it was rarely accompanied by myelopathy. Myopia was found in 45% (95% CI 35-56), and retinal detachment had occurred in 12% (95% CI 6-21; median age 14 years; youngest age 3.5 years). Thirty-two patients complained of hearing loss (37%, 95% CI 27-48) of whom 17 required hearing aids. The ophthalmological features and possibly also hearing loss are often relatively frequent and severe in patients with splicing mutations. Based on clinical findings, age at onset and genotype-phenotype correlations in this cohort, we propose guidelines for the management and follow-up in this group of disorders.
摘要：
2型胶原蛋白疾病包括一组不同的骨骼发育不良，通常与骨科相关，眼,和听力问题。然而,许多临床特征的频率从未确定。我们回顾性调查了临床，放射学,和一组93例分子确诊的SEDC或相关疾病患者的基因型数据。大多数患者（80/93）身材矮小，具有SEDC的放射学特征（n=64），其他有SEMD(n=5)，膝关节发育异常（n=7），脊柱周围发育不良（n=2），或Torrance样发育不良（n=2）。其余13例患者身高正常，轻度SED，Stickler样综合征或多发性骨phy发育不良。超过50％的患者接受了骨科手术，通常用于脊柱侧弯，股骨截骨术或髋关节置换术。56％（95％CI38-74）存在齿状突发育不全，并且观察到齿状突发育不全与身材矮小之间存在相关性。寰枢椎不稳定,在18例患者中观察到5例(28%，95％CI10-54）可获得颈椎屈伸膜；但是，它很少伴有脊髓病。近视发生率为45%（95%CI35-56），视网膜脱离发生率为12%(95%CI6~21;中位年龄14岁;最小年龄3.5岁).32名患者抱怨听力损失(37%，95%CI27-48)，其中17人需要助听器。在剪接突变的患者中，眼科特征和听力损失通常相对频繁且严重。根据临床发现,该队列的发病年龄和基因型-表型相关性，我们提出了该组疾病的治疗和随访指南.
