Associated syndromes in patients with Pierre Robin Sequence

Area of Science:

• Genetics
• Pediatrics
• Medical Syndromes

Background:

• Pierre Robin Sequence (PRS) is characterized by micrognathia, glossoptosis, and airway obstruction, often with cleft palate.
• Existing literature suggests Stickler syndrome is the most frequent genetic association, followed by 22q11 deletion syndrome (22q11 DS).

Purpose of the Study:

• To identify and quantify the associations between Pierre Robin Sequence and various genetic syndromes.
• To evaluate the prevalence of Stickler syndrome and 22q11 DS in patients diagnosed with PRS.

Main Methods:

• A retrospective chart review was conducted over a 10-year period (2007-2017) at a tertiary children's hospital.
• Patient records of individuals diagnosed with PRS, defined by the triad of micrognathia, glossoptosis, and airway obstruction, were analyzed.

Main Results:

• Out of 4,052 reviewed charts, 234 patients were diagnosed with PRS; all also had cleft palate.
• Of the PRS patients, 65 (28%) had syndromic diagnoses, with Stickler syndrome in 31 (13.2%) and 22q11 DS in only 1 (0.43%).
• Other identified syndromes included central hypoventilation syndrome, Duane syndrome, and Cornelia de Lange syndrome, among others.

Conclusions:

• The findings support the established high association between Pierre Robin Sequence and Stickler syndrome.
• The study indicates a rare association between Pierre Robin Sequence and 22q11 deletion syndrome, contrary to some previous assumptions.