Pierre Robin Sequence Workup

Updated: Oct 30, 2018
  • Author: Marie M Tolarova, MD, PhD, DSc; Chief Editor: Ravindhra G Elluru, MD, PhD  more...
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Workup

Imaging Studies

When Pierre Robin sequence (PRS) is diagnosed, diagnostic tests such as bone radiographs are appropriate to assess for other suspected syndromes.

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Other Tests

When PRS is diagnosed, a full genetic evaluation (fluorescent in situ hybridization [FISH] for 22q deletion, test for mutation in Treacle [TCOF1] gene) is appropriate. An ophthalmologic examination is also appropriate to assess for suspected syndromes.

Given the small jaw and therefore the predispostion to upper-airway obstruction, children with suspected PRS should undergo polysomnography, as well as an airway evaluation with bedside nasopharyngoscopy.

Finally, children with PRS may have feeding problems and should be evaluated by a feeding specialist (speech pathologist).

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