[Clinical case of congenital cleft palate in 22q11.2 deletion syndrome]

Area of Science:

• Genetics
• Pediatric Surgery
• Endocrinology

Background:

• 22q11.2 deletion syndrome is a genetic disorder associated with various congenital anomalies.
• Congenital cleft palate is a common manifestation, significantly impacting feeding, speech, and facial aesthetics.
• Systemic disorders, particularly endocrine abnormalities, are frequently observed in 22q11.2 deletion syndrome and influence craniofacial development.

Observation:

• A clinical case of congenital cleft palate in a patient with 22q11.2 deletion syndrome is presented.
• The patient exhibited concurrent systemic disorders that complicated the perioperative period and functional indicators.
• Endocrine disorders characteristic of 22q11.2 deletion syndrome were noted to affect facial development.

Findings:

• The interplay between cleft palate, 22q11.2 deletion syndrome, and associated systemic/endocrine disorders presents unique surgical challenges.
• Functional indicators and perioperative management require careful consideration due to the syndrome's systemic impact.
• Facial development is directly influenced by the endocrine dysfunctions present in 22q11.2 deletion syndrome.

Implications:

• A multidisciplinary approach is essential for managing patients with 22q11.2 deletion syndrome and cleft palate.
• Early and coordinated interventions can optimize treatment outcomes for cleft repair.
• Proactive management of systemic and endocrine issues can prevent postoperative disturbances in maxillofacial development.