Bruck syndrome: A rare combination of bone fragility and multiple congenital joint contractures

被引：34

作者：

Breslau-Siderius, EJ ^{[1
]}

Englebert, RHB ^{[1
]}

Pals, G ^{[1
]}

van der Sluijs, JA ^{[1
]}

机构：

[1] Clin Genet Ctr, NL-3501 CA Utrecht, Netherlands

来源：

JOURNAL OF PEDIATRIC ORTHOPAEDICS-PART B | 1998年 / 7卷 / 01期

关键词：

osteogenesis imperfecta; arthrogryposis congenita; Bruck syndrome;

D O I：

10.1097/01202412-199801000-00006

中图分类号：

R826.8 [整形外科学]; R782.2 [口腔颌面部整形外科学]; R726.2 [小儿整形外科学]; R62 [整形外科学（修复外科学）];

学科分类号：

摘要：

Bruck syndrome manifests with combined features of arthrogryposis and osteogenesis imperfecta. It is a distinct autosomal recessive disorder with normal collagen I. The main features are osteoporosis, bowing of the long bones, scoliosis due to vertebral deformities, and congenital joint contractures. The presence of arthrogryposis differentiates this syndrome from "classical" osteogenesis imperfecta. A family with three affected children is presented with a review of the literature.

引用

页码：35 / 38

页数：4