Maxillomandibular distraction osteogenesis for Marshall-Smith syndrome

Area of Science:

• Medical Genetics
• Pediatric Surgery
• Craniofacial Surgery

Background:

• Marshall-Smith syndrome is a rare genetic disorder characterized by overgrowth, distinctive facial features, and congenital abnormalities.
• Respiratory complications often lead to early mortality in affected infants.
• Surgical intervention for craniofacial dysmorphism in Marshall-Smith syndrome has not been previously reported.

Observation:

• A male infant diagnosed with Marshall-Smith syndrome underwent surgical correction for micrognathia and maxillary hypoplasia.
• Procedures included bilateral mandibular distraction osteogenesis and LeFort III maxillary distraction osteogenesis.
• The patient experienced an uneventful postoperative course with significant improvements in facial appearance and occlusion.

Findings:

• Surgical treatment, including distraction osteogenesis, can effectively address facial dysmorphism in Marshall-Smith syndrome.
• The patient achieved long-term survival with improved quality of life post-surgery.
• While facial features and occlusion improved, the tracheal stoma remained open.

Implications:

• Surgical management should be strongly considered for long-term survivors of Marshall-Smith syndrome to enhance quality of life.
• This case establishes a precedent for surgical intervention in managing craniofacial abnormalities associated with this rare syndrome.
• Further research is warranted to explore the long-term efficacy and broader application of surgical techniques in Marshall-Smith syndrome.