Male siblings with tibia-metacarpal type of chondrodysplasia punctata without maternal factors

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• 作者：Rie Honda ; Takashi Ichiyama ; Shinji Maeba ; Shinpei Sunagawa ; Susumu Furukawa
• 关键词：Chondrodysplasia punctata ; Short tibiae ; Stippling calcification ; Tibia-metacarpal type
• 刊名：Brain and Development
• 出版年：2008
• 期刊代码：40_03877604
• 类别：med
• 出版时间：April 2008
• 卷：30
• 期：4
• 页码：301-304
• 文件大小：468 K

摘要

We report male siblings with tibia-metacarpal type of chondrodysplasia punctata, which was diagnosed by radiographic findings and clinical appearances. This is the first report of siblings without maternal systemic lupus erythematosus or medications during both pregnancies.