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The Mall Test (or Fun With a Dysmorphologist)

机译:购物中心测试(或与畸形科医生的乐趣)

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This past spring I had the honor of announcing my first graduate of our pediatrics-genetics residency program at the year- end pediatrics graduation dinner. The pediatrics department puts on a nice event, complete with a slide show for each graduating resident that includes their personal pictures-them as a baby, their spouses, and for some their children. When my turn came to present my resident, I made the comment that it was a dangerous practice to show a dysmorphologist your baby pictures. The line got a good laugh.Like most dysmorphologists, I assume, I am well known among the residents and medical students for my ability to identify abnormal physical findings-wide set eyes, unusual ears, odd creases on the palm-all of the type of findings that we as dysmorphologists focus on and use to make a genetic syndrome diagnosis. But the skill of identifying them, while it can be demonstrated, is impossible to teach.
机译:今年春天,我很荣幸在年底的儿科毕业晚宴上宣布我的儿科遗传学住院医师计划的第一名毕业生。儿科部门举办了一个很棒的活动,并为每位即将毕业的居民提供了幻灯片放映,其中包括他们的个人照片-他们是婴儿,配偶以及一些孩子。当轮到我介绍我的居民时,我评论说,向畸形科医生展示您的婴儿照片是危险的做法。我猜想像大多数畸形学家一样,我在居民和医学生中广为人知,因为我能够识别异常的物理发现,包括睁大的眼睛,不寻常的耳朵,手掌上的奇怪皱痕-所有类型作为畸形学家的研究重点,并将其用于诊断遗传综合症。但是,尽管可以证明,但是识别它们的技巧却无法教授。

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