Robin sequence

Robin sequence, also called Pierre Robin syndrome or Pierre Robin anamaloid, is a congenital condition characterised by facial abnormalities. Its aetiology has no genetic base, but rather, is reliant on a sequence of events, one following the other.

Robin sequence is the preferred term rather than Pierre Robin syndrome, as most cases are not syndromic 4.

Robin sequence occurs in 1 in 8500 neonates 3.

May present with upper airway obstruction, sleep disturbance or apnoea.

The primary defect is a retrognathic mandible which occurs at 7-11 weeks of gestation. This prevents the tongue from descending which in turn prevents fusion of palatal shelves resulting in glossoptosis (retraction of tongue), high or U-shaped palate and airway obstruction. It is characterised by

  • most cases tend to be sporadic

A sagittal fetal facial profile may show severe micrognathia. Ancillary sonographic features include

Severe micrognathia may lead to

  • obstruction to fetal swallowing: may in turn cause polyhydramnios
  • airway obstruction: may in turn lead to post natal hypoxia
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Article information

rID: 6243
Synonyms or Alternate Spellings:
  • Pierre robin syndrome
  • Pierre Robin sequence
  • Pierre Robin anamaloid
  • Pierre Robin syndrome

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