First Successful Le Fort III Distraction in a Patient With Beare-Stevenson Cutis Gyrata Syndrome.

OBJECTIVE

Beare-Stevenson cutis gyrata syndrome (BSS) is a genetic disorder caused by mutations in the FGFR2 gene. It is characterized by craniosynostosis, midface hypoplasia, Chiari malformations, and other extensive congenital abnormalities. We performed a Le Fort III distraction procedure on a girl with this condition and achieved favorable outcomes. To our knowledge, this report describes the world's first successful Le Fort III distraction osteogenesis occurring in a patient with BSS.

METHODS

The patient was a 5-year-old girl who was diagnosed with BSS shortly after birth and underwent a tracheostomy because of respiratory distress. At 2 months of age, she underwent a ventriculoperitoneal shunt placement, followed by occipital cranial expansion at 1 year and fronto-orbital distraction at 2 years of age. She was referred to our department for treatment of midface hypoplasia. Clinical findings and imaging studies revealed severe proptosis, very severe midface hypoplasia, and reverse occlusion. We used a halo-type external distraction device to perform Le Fort III distraction osteogenesis. Surgery was performed with utmost caution regarding the shunt tube and skull defects.

RESULTS

Postoperatively, a ∼25 mm distraction was achieved without major complications, and the distraction device was removed 2 months later. Two uneventful years after surgery, the patient showed significant improvements in proptosis, occlusion, and facial profile, with an excellent clinical course.

DISCUSSION: BSS is an extremely rare condition presenting with severe midface hypoplasia, with only around 30 reported cases. Because of its poor prognosis, which is associated with respiratory complications, this case, to our knowledge, represents the first successful report of a child with BSS treated by Le Fort III distraction osteogenesis. Given the high incidence of Chiari malformations along with the characteristic craniofacial abnormalities, early intervention by both pediatric neurosurgeons and plastic surgeons is crucial. In addition, patients with a relatively favorable prognosis should undergo Le Fort III distraction osteogenesis.