Pierre Robin Sequence Clinical Presentation

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

History and Physical Examination

Pierre Robin sequence (PRS) consists of the following three essential components (see the images below):

  • Micrognathia or retrognathia
  • Cleft palate (usually U-shaped but sometimes V-shaped)
  • Glossoptosis, often accompanied by airway obstruction - The tongue is not actually larger than normal, but because of the small mandible, the tongue is large for the airway and therefore causes obstruction; rarely, the tongue is smaller than normal
Three-week-old baby boy affected with nonsyndromic Three-week-old baby boy affected with nonsyndromic Pierre Robin sequence.
One-month-old baby affected with nonsyndromic Pier One-month-old baby affected with nonsyndromic Pierre Robin sequence.
U-shaped and V-shaped cleft palates. U-shaped and V-shaped cleft palates.

PRS is a series of anomalies all initiated by one developmental problem. Other definitions have been suggested, based on a combination of mandibular deficiency, presence of U-shaped or V-shaped cleft palate, and airway obstruction.

Airway obstruction with PRS, if very severe or not properly managed, may lead to hypoxia, cor pulmonale, failure to thrive, and cerebral impairment. Syndromic cases and Robin complexes are usually more severe than nonsyndromic PRS and have worse prognoses. Mortality has been reported to be as high as 30%. [35]  Neonates with PRS should be carefully monitored because a significant airway obstruction may develop during the first 1-4 weeks of life.

PRS occurs as an isolated defect, as part of a recognized syndrome, or as part of a complex of multiple congenital anomalies. Diagnosis of a possible syndrome is very often critically important for correct management of a newborn affected with PRS. [4, 5]  Among syndromic varieties of PRS, the most common is Stickler syndrome, which accounts for 20-25% of all cases (see the images below).

Eight-year-old boy with Stickler syndrome. Note fl Eight-year-old boy with Stickler syndrome. Note flat, hypotonic face and small mandible. Patient also has U-shaped, wide cleft palate (CP). His mandible does not show catchup growth. Patient is mouth-breather and snores and is using CP as airway. Closing of CP without preparation would compromise airway passage. Authors recommend placing an obturator (perhaps with speech bulb) for couple of hours daily at first, then gradually increasing time. After few months, when child will have changed breathing pattern, palate can be closed.
Eight-year-old boy with Stickler syndrome. Note fl Eight-year-old boy with Stickler syndrome. Note flat, hypotonic face and small mandible. Mandible does not show catchup growth.
Eight-year-old boy with Stickler syndrome. Note U- Eight-year-old boy with Stickler syndrome. Note U-shaped, wide cleft palate.