Shohat M, Lachman R, Gruber H E, Rimoin D L
Department of Pediatrics and Medical Genetics--Birth Defects Center, Cedars-Sinai Medical Center, Los Angeles, CA.
Am J Med Genet. 1989 Jun;33(2):209-19. doi: 10.1002/ajmg.1320330214.
Brachyolmia refers to a form of skeletal dysplasia characterized by general platyspondyly without significant epiphyseal, metaphyseal, or diaphyseal changes in the long bones. As a result of a study of 11 patients from 7 different families and a review of the literature we propose that there are 3 and possibly 4 different types of brachyolmia: 1. Hobaek type--an autosomal recessive condition with universal platyspondyly, irregular, and reduced intervertebral spaces and marked extension of the lateral margins of the vertebrae. Rectangular and elongated vertebral bodies are seen on lateral views of the spine, which become more pronounced with age. Toledo type--radiographically similar to Hobaek type but also associated with corneal opacities and precocious ossification of costal cartilage. It is uncertain as to whether this represents variability or heterogeneity. 2. Maroteaux type--an autosomal recessive disorder that is distinguished from Hobaek type by rounding of the anterior and posterior vertebral borders with less elongation on lateral view and less lateral extension on A.P. view. This type may be associated with precocious calcification of the falx cerebri, and minor facial anomalies. 3. Dominant type--a previously underscribed form which we have observed in a mother and her son. This type has the most severe vertebral changes with flattening and irregularities of the cervical spine. These clinical, radiological, and genetic differences suggest genetic heterogeneity in this group of platyspondylic disorders.
短躯干侏儒症是一种骨骼发育不良的形式，其特征是普遍的扁平椎，长骨的骨骺、干骺端或骨干无明显变化。通过对来自7个不同家庭的11名患者的研究以及文献回顾，我们提出短躯干侏儒症有3种，可能还有4种不同类型：1. 霍贝克型——一种常染色体隐性疾病，具有普遍的扁平椎、不规则且变窄的椎间隙以及椎骨侧缘明显延长。在脊柱侧位片上可见矩形且拉长的椎体，随着年龄增长更为明显。托莱多型——放射学表现与霍贝克型相似，但也伴有角膜混浊和肋软骨早熟性骨化。尚不确定这是代表变异性还是异质性。2. 马罗泰型——一种常染色体隐性疾病，与霍贝克型的区别在于椎体前后缘呈圆形，侧位片上伸长较少，前后位片上侧方延伸较少。此型可能与大脑镰早熟性钙化以及轻微面部异常有关。3. 显性型——一种此前未被充分描述的类型，我们在一位母亲及其儿子身上观察到。此型椎体变化最为严重，颈椎变平且不规则。这些临床、放射学和遗传学差异表明这组扁平椎疾病存在遗传异质性。
