Combined Fronto-orbital Contouring and Orthognathic Surgery in Craniometaphyseal Dysplasia

Summary:

Craniometaphyseal dysplasia is a rare congenital sclerosing skeletal dysplasia that presents with facial dimorphism and is clinically described by prominent supraorbital bridges, severe retrognathia, and respiratory problems. Fronto-orbital cranioplasty is necessary to achieve satisfactory aesthetic outcomes. The supraorbital arches were exposed to the nasal bone through coronal access, with the help of a saw and a wear drill, and osteotomy of the frontal and orbital regions with hyperostosis was performed. Our case report describes a rare and difficult to diagnose case with a few publications of a 24-year-old female patient, who presented with metaphyseal dysplasia associated with mandibular retrognathia. As a treatment, fronto-orbital cranioplasty was performed in association with orthognathic surgery. The resolution of the case resulted in excellent functional and aesthetic results, indicating that frontal cranioplasty associated with orthognathic surgery is a plausible treatment for facial dimorphism through craniometaphyseal dysplasia.

Craniometaphyseal dysplasia (CMD) is a rare congenital disease with most prevalence in men, although women can express a milder phenotype, such as hyperostosis and limb anomalies. Its main characteristics are facial dysmorphism with supraorbital hyperostosis, downward-sloping palpebral fissures, ocular hypertelorism, widening of the bridge and nasal tip, hypodontia, oligodontia, and occasionally, craniosynostosis and hearing loss.^1,2 No associated neurological deficits were observed in the patients.

Oral manifestations of CMD include retrognathism, malocclusion, facial asymmetry, and maxillary atresia, which lead to respiratory deficits and obstructive sleep apnea. Other skeletal manifestations may be associated with cardiac malformations, urological obstructions, and joint deformities in the upper and lower limbs.³ Long bones present with epiphyseal enlargement and a club-like appearance, especially in the distal femur. CMD is difficult to diagnose and can be confused with Pyle disease (metaphyseal dysplasia with the spine and pelvis affected) or frontometaphyseal dysplasia.⁴

The treatment of dysplasia is local and individualized. In CMD for cosmetic correction of the skull, the treatment of choice is cranioplasty of the frontal region and upper orbits. This procedure may be concomitant with craniofacial correction, thus involving the facial bones and necessitating orthognathic surgery.⁵

Fronto-orbital cranioplasty is necessary to achieve satisfactory aesthetic outcomes. The supraorbital arches were exposed to the nasal bone through coronal access with the help of a saw and a wear drill, and osteotomy of the frontal and orbital regions with hyperostosis was performed.⁶ The complication rate was very low (5.6%) and was generally associated with the presence of grafts during cranioplasty.⁷ The aim of this study was to elucidate a rare case of CMD associated with orthognathic surgery at the same surgical time, thus restoring craniofacial aesthetics, chewing, and respiratory function.

CASE REPORT

A 24-year-old White woman presented with aesthetic requests related to the frontal and mandibular regions. She reported functional complaints of chewing, mouth opening and jaw locking, and snoring, in addition to aesthetic complaints such as a gummy smile, retrognathia, and increased volume in the region of the frontal bone.

She was diagnosed with CMD at 8 years of age and underwent surgery to correct her legs and feet to assist with movement. When the previous surgery was performed, according to the patient’s report, she did not present any neurological impairment or other systemic comorbidities. No genetic tests were performed, and the diagnosis was made clinically by a geneticist.

Facial and intraoral examinations were also performed, combined with cephalometric examinations and x-rays, and the patient was diagnosed with facial asymmetry, narrowing of the airways, severe retrognathia, and Angle class 2 dentoskeletal deformity. Additional examinations, such as computed tomography, showed a supraorbital bone increase without compromising the posterior wall of the frontal sinus (measuring 1.2 cm of bone in the thickest region of the frontal bone), which extended across the roof of the bilateral orbit. Surgical planning included orthognathic surgery (counterclockwise rotation of the maxillomandibular complex and segmentation of the maxilla), advancement genioplasty, and cranioplasty for the osteoplasty of the supraorbital region (Fig. 1).

Fig. 1.

Combined fronto-orbital contouring and orthognathic surgery. A, Patient before surgery showed increased volume in the frontal bone and mandibular retrognathia. B, After cranioplasty and orthognathic surgery.

The patient underwent the procedure in a surgical center under general anesthesia, with an unsuccessful attempt at nasotracheal intubation due to anatomical variations, severe retrognathism, and a difficult airway, requiring oral intubation with submental variation with the help of the surgical team in the room, to enable orthognathic surgery. The surgical procedure began with orthognathic surgery, mandible first, followed by LeFort 1 osteotomy and genioplasty. After completion of orthognathic surgery, the coronal access was performed as described in the literature, and fronto-orbital cranioplasty of the frontal and supraorbital regions was performed. During osteoplasty, layered bone deposition was observed, compatible with bone dysplasia and suggestive of frontometaphyseal dysplasia. The bone excess was removed with spherical wear drills layer-by-layer from the frontal region to the supraorbital region, restoring the anatomical contour (Fig. 2).

Fig. 2.

Fronto-orbital contouring. A, The bone appearance of layers indicating CMD. B, Frontal bone shaving.

The surgery was uneventful, and antibiotics, corticosteroids, analgesics, and ice packs were administered in the immediate postoperative period, where significant changes were already observed (Fig. 1). The patient remained under follow-up for 1 year, progressing uneventfully, without complaints and with a resolution of the asymmetry and skeletal deformity of the maxillofacial and frontal region.

The patient was satisfied with the results of the treatment and showed significant aesthetic and functional improvements. Orthodontic treatment was necessary for orthosurgical completion, and there was an improvement in breathing and snoring, as previously reported by the patient.

DISCUSSION

With few studies in the literature on CMD, many doubts arise regarding its diagnosis and treatment, especially when no genetic test is used. Because there is no neurological impairment, patients neglect a correct diagnosis and only undergo specific treatments for the specific and local needs, such as cosmetic surgery.^1,2

Some diseases, such as Pyle disease or frontometaphyseal dysplasia, may have very similar symptoms and are only genetically distinguished. All these diseases, including CMD, are rare and can cause various changes in the face, such as supraorbital bone enlargement, widening of the nasal bridge, dental changes, and jaw micrognathia, as observed in this case. There is still no consensus on its treatment, although most authors agree on waiting for the end of bone growth (men, 18–20 years; women, 14–16 years) and evaluating the aesthetic impairment caused.^3,5,7 As it is a disease that does not have a neurological impairment and its dysplasia occurs in the exophytic sense, its treatment involves plasty of the skull and orbits, restoring anatomical aesthetics.^3,4 The chosen treatment must target not only the aesthetic factor, but also the functional conditions that may be affected, as well as psychological issues related to self-esteem and sociability, all of which must be evaluated to allow the development of an individual treatment plan that meets patient expectations.⁵ The increase in life expectancy, advances in surgical techniques, and constant search for functional aesthetic standards have made orthognathic surgery a reality today, promoting safe and significant results in the lives of these patients.^8,9

In addition to correcting retrognathia, orthognathic surgery when performed bimaxillary or with counterclockwise rotation is a treatment for obstructive sleep apnea and respiratory problems.^8,10,11 These data are well established in medical literature.^10,11

CMD has rarely been reported in the literature, and cranioplasty for aesthetic correction has been chosen in most cases. However, if there is an associated dentoskeletal deformity, surgical treatment should be considered before, concomitantly, or after cranioplasty. Our choice was for concomitant procedures owing to the patient’s good health condition, virtual osteotomy planning, and high predictability of jaw repositioning.

Cranioplasty of the fronto-orbital region has proven to be an effective treatment for aesthetic correction of the upper third of the patient’s face. Performing this treatment in 1 surgical session gave agility to the function and aesthetic results that the patient was looking for. Long-term follow-up by maxillofacial surgeons and geneticists will be necessary.

DISCLOSURE

The authors have no financial interest to declare in relation to the content of this article.

DECLARATION OF HELSINKI

This investigation was conducted according to the principles expressed in the Declaration of Helsinki.