Maxillomandibular distraction osteogenesis for Marshall–Smith syndrome

Summary 

The Marshall–Smith syndrome is a very rare disorder with early overgrowth and was first reported by Marshall et al. in 1971. Patients with the Marshall–Smith syndrome have characteristic facial features and systemic congenital abnormalities. In many cases, patients die early in the postnatal period due to respiratory disorders. We treated a male child with this syndrome with plastic surgery to improve facial features – the first effort of its kind in the world. We report good results from the surgery. The treatment included bilateral mandibular distraction osteogenesis for micrognathia and tracheostomy weaning. Six months later, LeFort III maxillary distraction osteogenesis was performed for maxillary hypoplasia. The clinical course was uneventful after both surgeries. At the time of this report, facial appearance and occlusal conditions have improved markedly, although the tracheal stoma could not be closed. The patient is a long-term survivor of this condition. After considering quality-of-life issues for the patient, surgical treatment was offered for facial dysmorphism. This type of effort has not yet been reported in the literature. For patients with the Marshall–Smith syndrome who are expected to survive long, surgical treatment should be strongly considered to improve the quality of life of the affected child.

Keywords: Marshall–Smith syndrome, Maxillomandibular distraction, Craniofacial anomalies