van der Woude Syndrome Workup

Updated: Apr 13, 2015
  • Author: Gregory P Conners, MD, MPH, MBA; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
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Workup

Laboratory Studies

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  • Although diagnosis of van der Woude syndrome is primarily clinical, chromosomal analysis may be appropriate. This technology is rapidly improving and may be noninvasively performed using tissue that is easily obtained, transported, and stored, such as a piece of fingernail.
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Imaging Studies

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  • When planning surgical intervention, imaging studies of affected areas, such as CT scanning of the oropharynx, may be appropriate. Fistulography of lip pits may help to determine their depth and course.
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Other Tests

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  • Intelligence and cognitive testing may demonstrate abnormalities; these have been shown in one study to affect males more than females. [2]
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