Microstomia Correction in an 11-Year-Old Girl With Freeman-Burian Syndrome

Freeman-Burian syndrome (FBS) is a congenital myopathic craniofacial condition that often includes features outside the craniofacial region. Among the craniofacial manifestations of FBS, the severely reduced oral aperture stands out as one of the most functionally limiting features of the condition. This marked constriction compromises nutritional intake, speech clarity, oral health maintenance, and airway access. Additionally, the distinctive "pursed-lip/whistling" facial appearance imposes considerable psychological and social challenges.

An 11-year-old girl was evaluated for challenges consuming solid food and prolonged meal duration, issues that had persisted since early childhood. Physical assessment demonstrated characteristic FBS findings meeting the diagnostic criteria, including microstomia (interlabial distance of 24 mm at maximum opening), an H-shaped chin defect, hypoplastic nasal alae, and prominent nasolabial creases. Additional findings included mild thoracic scoliosis and reduced stature.

The patient underwent bilateral surgical widening of the oral commissures employing Converse's V-Y mucosal advancement flap technique to enlarge the restricted mouth opening. Fiber-optic assisted nasal intubation was utilized for airway management.

Optimal outcomes depend on an accurate and early diagnosis and understanding of the myopathic craniofacial basis and origin of the syndrome, together with an anticipatory and coordinated team-based strategy. Management must specifically target the fibrous constricting bands, ensure an adequate oral aperture for nutrition and dental care, support long-term needs of the patient, and incorporate careful preparation for anesthesia-associated complications.