伯顿骨骼发育不良：第二例病例报告。

Burton skeletal dysplasia: the second case report.

作者信息

Lo I F, Roebuck D J, Lam S T, Kozlowski K

机构信息

Clinical Genetic Service, Department of Health, Kowloon, Hong Kong.

出版信息

Am J Med Genet. 1998 Sep 23;79(3):168-71. doi: 10.1002/(sici)1096-8628(19980923)79:3<168::aid-ajmg3>3.0.co;2-j.

DOI:10.1002/(sici)1096-8628(19980923)79:3<168::aid-ajmg3>3.0.co;2-j

PMID:9788555

Abstract

We describe a 2-year-old girl with clinical and radiological findings of Burton skeletal dysplasia. This rare disorder shows some similarities to Kniest dysplasia. Short stature, joint stiffness, microstomia, and pursed lips are characteristic clinical findings. Platyspondyly with cervical kyphosis, but no coronal clefts, and bowing of the long bones are distinctive radiographic findings.

摘要

我们描述了一名患有伯顿骨骼发育不良的临床和放射学表现的2岁女孩。这种罕见的疾病与克尼斯发育不良有一些相似之处。身材矮小、关节僵硬、小口畸形和撅嘴是其典型的临床特征。扁平椎体伴颈椎后凸，但无冠状裂，以及长骨弯曲是其独特的影像学表现。