Isolated Robin sequence in siblings: review of current concepts

Area of Science:

• Craniofacial anomalies
• Pediatric surgery
• Genetics

Background:

• Robin sequence involves micrognathia, glossoptosis, and airway obstruction, often including cleft palate.
• It can be isolated, syndromic, or associated with other anomalies.
• The genetic basis for isolated Robin sequence is under investigation, and familial cases are exceptionally rare.

Purpose of the Study:

• To describe the treatment and outcomes for two siblings with isolated Robin sequence.
• To review current knowledge on Robin sequence epidemiology, genetics, diagnosis, and treatments.
• To evaluate mandibular distraction osteogenesis as a management option.

Main Methods:

• Case report of two affected siblings.
• Literature review of Robin sequence.
• Analysis of treatment outcomes, focusing on mandibular distraction osteogenesis.

Main Results:

• The study presents two rare cases of siblings with isolated Robin sequence.
• Mandibular distraction osteogenesis was evaluated as a treatment option.
• This surgical approach can potentially avoid tracheostomy.

Conclusions:

• Mandibular distraction osteogenesis is a rational and effective option for isolated Robin sequence when conservative treatments fail.
• It provides a reliable alternative to tracheostomy.
• Further research into the genetics of isolated Robin sequence is warranted.