Fan Rong, Flores Roberto L, Faught Philip R, Lin Jingmei
1 Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.
Pediatr Dev Pathol. 2013 Sep-Oct;16(5):343-7. doi: 10.2350/13-02-1302-OA.1. Epub 2013 Aug 15.
Congenital lower lip pits are cardinal findings of van der Woude syndrome [OMIM 119300]. The nosologic context of how lower lip pits are catalogued is easily lost because of insufficient clinical history, subtle findings misidentified as artifacts, lack of awareness by the pathologist, the perception that these are identify/confirm descriptive-diagnosis only, not necessarily an element of an actionable report, and/or the rarity with which these specimens are accessioned (in the authors' experience, less than 1 case per year). We present the salient findings on 19 lower lip pits specimens from the files of a single institution collected over the last 25 years.
先天性下唇凹陷是范德伍德综合征[OMIM 119300]的主要表现。由于临床病史不充分、细微表现被误认作文物、病理学家缺乏认识、认为这些仅用于识别/确认描述性诊断,不一定是可操作报告的要素,和/或这些标本送检的罕见性(根据作者经验,每年少于1例),下唇凹陷的分类学背景很容易被忽略。我们展示了过去25年从单一机构档案中收集的19例下唇凹陷标本的显著发现。