Spondylometaphyseal dysplasia with cone-rod dystrophy
Spondylometaphyseal dysplasia with cone-rod dystrophy
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DOI：
10.1002/ajmg.a.30145
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发表时间：
2004-09-01
影响因子：
2
通讯作者：
Pauli, RM
中科院分区：
文献类型：
--
作者：
Walters, BA;Raff, ML;Pauli, RM
眼科异常与先天性骨骼发育不良同时发生的情况并不常见。我们描述了8例与锥-杆营养不良相关的独特形式的腰椎滑脱发育不良（SMD）（尽管在某些情况下，文献不足以确定诊断）。这是一种新的SMD综合征，有常染色体证据。隐性传播认识到这里所描述的特定的骨骼特征，应沉淀全面的眼科评估，因为视力障碍成为显着的残疾与年龄。(C)2004 Wiley-Liss，Inc.
The co-occurrence of ophthalmologic abnormality and intrinsic skeletal dysplasia is uncommon. We describe eight instances of a unique form of spondylometaphyseal dysplasia (SMD) associated with cone-rod dystrophy (although documentation is insufficient to be certain of that diagnosis in some). This is a new, syndromic form of SMD for which there is evidence for autosomal. recessive transmission. Recognition of the specific bony features described here should precipitate comprehensive ophthalmologic assessment, since vision impairment becomes significantly disabling with age. (C) 2004 Wiley-Liss, Inc.