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Fetopathology and developmental pathology of the embryo and fetus
Marta Ježová, Josef Feit et al.
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Pierre-Robin sequence
Introduction

A group of developmental abnormalities, which include mandibular hypoplasia (recessive chin), glossoptosis and cleft palate.

Etiology, pathogenesis

As a isolated defect or a part of some syndrome (trisomy 18, Di George syndrome etc.)

The initial event is mandibular hypoplasia, the tongue is therefore pushed back and down, preventing the closure of the palate shelves.

Clinical signs
  • incidence 1 : 8 500 – 1 : 30 000
  • characteristic trias:
    • marked micrognathia, i.e. small jaw
    • glossoptosis — downward displacement of the tongue
    • cleft palate
  • associated systemic anomalies are frequent, especially congenital skeletal defects
  • clinical signs: airway obstruction, feeding difficulties, recurrent otitis and hearing disorders

Pierre-Robinova sequence (72526)

Pierre Robinova sequence, ultrasound (72951)

Case study
Pierre Robin Sequence
Marta Ježová
History

Marked micrognathia, upper limb malformations, 22-week fetus.

Pictures

Marked micrognathia, upper limb malformations: Robin's sequence, Macro, autopsy (72525)

Detail of the head: Robin's sequence, autopsy, Macro, autopsy (72526) Robin's sequence, autopsy, Macro, autopsy (72527)

Ultrasound video of the fetus, prominent micrognathia: Pierre-Robin sequence, Ultrasound, video (72951)