NEW VARIETY OF SPONDYLOEPIPHYSEAL DYSPLASIA CHARACTERIZED BY PUNCTATE CORNEAL-DYSTROPHY AND ABNORMAL DERMAL COLLAGEN FIBRILS
NEW VARIETY OF SPONDYLOEPIPHYSEAL DYSPLASIA CHARACTERIZED BY PUNCTATE CORNEAL-DYSTROPHY AND ABNORMAL DERMAL COLLAGEN FIBRILS
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DOI：
10.1007/bf00272296
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发表时间：
1978-01-01
期刊：
影响因子：
5.3
通讯作者：
CHANDLER, JW
中科院分区：
文献类型：
--
作者：
BYERS, PH;HOLBROOK, KA;CHANDLER, JW
来自1个家庭的几个人被描述为一种独特形式的脊柱骨盆发育不良。特征包括短干矮小的身高，点状角膜营养不良和真皮胶原纤维的明显解体，当用电子显微镜检查时。遗传既与显性兼容，也与变量表达式或X连锁兼容。尽管基本的缺陷尚未确定，但组织分布与影响胶原纤维形成或稳定性的非胶原成分的缺陷是一致的。
Several individuals from 1 family are described with a unique form of spondyloepiphyseal dysplasia. Characteristic features include short-trunked short stature, punctate corneal dystrophy and marked disorganization of dermal collagen fibrils when examined by transmission electron microscopy. Inheritance is compatible with either dominance and a variable expression or X-linkage. Although the basic defect has not been determined, the tissue distribution is consistent with a defect in a non-collagenous component that affects collagen fibril formation or stability.