Congenital lower lip pits (van der Woude syndrome): What pathologists need to know

Rong Fan, Roberto L. Flores, Philip R. Faught, Jingmei Lin

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)343-347
Number of pages5
JournalPediatric and Developmental Pathology
Volume16
Issue number5
DOIs
StatePublished - Sep 1 2013

Keywords

  • Congenital lower lip pits
  • Congenital malformation
  • IRF6
  • Pathology
  • Popliteal pterygium syndrome
  • Van der Woude syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine

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