Robin sequence without cleft palate: Genetic diagnoses and management implications.

Area of Science:

• Pediatric medicine
• Genetics
• Neonatology

Background:

• Robin sequence (RS) involves micrognathia, glossoptosis, and airway obstruction, causing neonatal respiratory and feeding issues.
• Approximately 50% of RS cases are syndromic, associated with other comorbidities.
• The relationship between RS and cleft palate (CP) is variable, with limited research on their clinical differences.

Purpose of the Study:

• To investigate clinical differences in children with RS based on the presence or absence of CP.
• To compare genetic diagnoses, comorbidities, airway obstruction severity, and feeding outcomes between RS with and without CP.

Main Methods:

• Retrospective review of 175 children diagnosed with RS.
• Comparison of clinical data stratified by the presence or absence of CP.
• Analysis included genetic diagnoses, comorbidities, airway obstruction, and feeding outcomes.

Main Results:

• 100% of RS cases without CP (45/45) were syndromic, versus 64% with CP (83/130).
• Among syndromic RS cases, no significant differences were found in airway obstruction severity, surgical rates, or feeding outcomes at 12 months based on CP status.
• RS without CP was strongly associated with unrelated comorbidities.

Conclusions:

• The pathogenesis of RS without CP appears distinct from RS with CP.
• RS without CP is more frequently associated with additional medical or developmental problems.
• Children with RS without CP and without other anomalies may be underdiagnosed.