Comprehensive management of Crouzon syndrome: A case report with three-year follow-up

Abstract

Crouzon syndrome is one of the most common craniosynostosis facial syndromes caused by a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. Less commonly, there is a mutation of the FGFR3 gene which results in Crouzon syndrome syndrome with acanthosis nigricans. It involves the premature fusion of sutures of the cranial vault, base, orbital and maxillary region. The clinical presentation of this congenital deformity depends on the pattern and timing of sutural fusion. The present report describes the features and management of this syndrome in an 18-year-old woman. The patient presented with a hypoplastic maxilla, deficient midface, exorbitism due to shallow orbits, severe crowding and bilateral crossbite. A multidisciplinary approach involving orthodontics and surgical intervention with distraction osteogenesis brought about marked improvement in the facial profile, occlusion and upper airway. The aesthetics and function were greatly enhanced, and the results were found to be stable at the end of three years.

Orthodontic Management of an Adult Crouzon Syndrome: A Case Report

“…In fact, the employed devices make it possible to advance the midface and achieve good aesthetic effects (9). In the case study by Tripathy et al, the rigid external distractor (RED) device was attached to the lateral nasal wall with wires and the maxillary arch with an arch bar (6). This was similar to the approach taken in the cases of Engel et al (29) and Kuroda et al (30).…”

“…Tripathy et al ( 6) applied the distraction procedure while activating the range of 1-2 mm per day as recommended until the skeletal deformity was resolved (31).The RED device is easier to remove in adults because it doesn't require general anesthesia. Additionally, there are no visible scars because the coronal incision may be concealed by the hairline (6,32).…”

“…Since our patient presented after cessation of growth, no growth modification therapy could be administered. Mohammadi et al (37) have listed the various surgical procedures that are typically recommended at this point as follows: (i) subcranial monobloc advancement osteotomy for the correction of deficiencies in the infraorbital, supraorbital, and nasomaxillary areas; (ii) Le Fort III extracranial osteotomy for the correction of defects located in the middle third of the face in patients with normal frontal areas; (iii) modified Le Fort III osteotomy for indicating where the nasomaxillary complex is not involved, and only the midface needs correction; and (iv) Le Fort II osteotomy for indicating where the orbital and zygomatic areas are minimally involved compared to the nasomaxillary areas (6,38). Due to the greater complications of the monobloc Le Fort III advancements, including longer operating times, additional bone grafting, increased blood loss, a higher tendency to relapse, and occasional cerebrospinal leakage (39)(40)(41), the Le Fort III osteotomy with distraction osteogenesis for advancement might be the preferred treatment in our case.…”

“…Crouzon syndrome (CS), the most common craniosynostosis condition, is a rare genetic disorder with a documented prevalence of 16 per million births globally. It is an autosomal dominant condition linked to numerous fibroblast growth factor receptor 2 (FGFR2) mutations (4)(5)(6). FGFR2 has a signaling function in cranial sutures and plays a crucial role in limbs embryonic development (7).…”

Peculiar Features and Surgical Approach in Syndromes With Maxillofacial Implications: A Case Series and Updated Review

“…Crouzon syndrome is considered to be one of the most common craniosynostosis syndromes [39][40][41] , affecting 1:65,000 individuals 42 . Characterized by midface hypoplasia, increased head circumference, proptosis, false prognathism, malocclusion, and premature fusion of craniomaxillofacial sutures 39,42 . Because of these skeletal features, obstructive sleep apnea and frequent headaches are strongly associated with Crouzon syndrome 40,43,44 .…”