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

Area of Science:

• Genetics and craniofacial surgery
• Rare genetic disorders
• Congenital abnormalities

Background:

• Beare-Stevenson cutis gyrata syndrome (BSS) is a rare genetic disorder caused by FGFR2 mutations.
• BSS presents with craniosynostosis, midface hypoplasia, and Chiari malformations.
• Severe midface hypoplasia poses significant challenges in affected children.

Purpose of the Study:

• To report the first successful Le Fort III distraction osteogenesis in a patient with Beare-Stevenson cutis gyrata syndrome.
• To evaluate the effectiveness of Le Fort III distraction in correcting severe midface hypoplasia in BSS.
• To highlight the importance of multidisciplinary surgical intervention for BSS.

Main Methods:

• A 5-year-old girl with BSS underwent Le Fort III distraction osteogenesis using a halo-type external device.
• Surgical planning carefully considered the patient's existing shunt and skull defects.
• Distraction was performed cautiously to manage severe midface hypoplasia and proptosis.

Main Results:

• Achieved approximately 25 mm of distraction without major complications.
• The distraction device was removed after 2 months.
• Two years post-surgery, the patient exhibited significant improvements in proptosis, occlusion, and facial profile.

Conclusions:

• Le Fort III distraction osteogenesis can be a successful treatment for severe midface hypoplasia in Beare-Stevenson cutis gyrata syndrome.
• Early, coordinated intervention by neurosurgeons and plastic surgeons is crucial for managing BSS.
• This case represents a significant advancement in the surgical management of this rare condition.