The Robin anomalad (Pierre Robin syndrome)--a follow up study.

Role of SOX9 in the Etiology of Pierre-Robin Syndrome

Objective(s:Cleft lip/palate are common congenital anomalies, affecting approximately 2/1000 live births. Pierre Robin Sequence is a subgroup of the cleft palate population. Chromosomal abnormalities near the SOX9 gene disrupt the regulation of this gene and prevent the SOX9 protein from properly controlling the development of facial structures, which leads to isolated PRS. The present study wa...

سندرم پیرروبین ( THE PIERRE ROBIN SYNDROME )

Proximal femoral focal deficiency associated with the Robin anomalad.

A case of unilateral proximal femoral focal deficiency (PFFD) and the Robin anomalad is reported. Since bilateral PFFD and unusual facies have been reported before, we suggest an association between the Robin anomalad and PFFD.

The Robin Anomalad: Micrognathia and Glossoptosis With Airway Obstruction

When micrognathia (small jaw) and glossoptosis (falling backward of the tongue) occur in the newborn, there is a great danger of upper airway obstruction. These deformities are frequently associated with an incomplete cleft of the palate, and the entity has been referred to as the Pierre Robin syndrome. Robin was far from the first to recognize the anatomical condition that bears his name, but ...

Case report of Pierre Robin sequence with severe upper airway obstruction who was rescued by fiberoptic nasotracheal intubation

BACKGROUND Pierre Robin sequence (PRS) refers to the association of micrognathia, glossoptosis, and airway obstruction. Cases with severe dyspnea due to upper airway obstruction immediately after birth are very rare. We here report two cases with PRS who developed severe dyspnea due to morphological abnormality immediately after birth and were rescued by fiberoptic nasotracheal intubation. CA...