The aim of the study is to present the clinical findings in head examination in one case of Marfan syndrome and to emphasize its importance in combined treatment planning, orthodontic and surgical orthognathic. This article’s data are considered to be significant indicators of a Marfan syndrome.
We present a 26 year old woman patient with severe bimaxillary retrognathia, bilateral zygomatic hypoplasia, highly arched palate with dental crowding. These elements of the cephalic region are suggestive for Marfan syndrome. The diagnosis was verified radiological and genetically. Similar clinical findings were found in patient’s family (patient’s mother and patient’s older sister). This fact pleads for hereditary syndrome transmission.
Dysgnathia’s correction follows precise steps with orthodontic treatment prior to orthognathic surgery and, in the end, again orthodonthic treatment with the final oclusal refinements.
Combined treatment has reached to a major improvement of the patient’s face and, also, to the final results stability, because, with this complex therapy, it was changed the maxillary bases which determined the dento-skeletal anomaly.
Scopul studiului este de a prezenta tabloul clinic la nivelul extremității cefalice într‐un caz de sindrom Marfan și de a releva importanța acestuia în planificarea tratamentului multimodal ortodontic și chirurgical, ortognatic. Datele enumerate în acest articol sunt considerate a fi indicatori semnificativi în diagnosticul sindromului Marfan.
Prezentăm o pacientă de 26 de ani, a cărei investigații clinice și paraclinice au relevat: retrognație bimaxilară severă, hiploplazie zigomatică bilaterală, boltă palatină adâncă și înghesuiri dentare. Aceste elemente ale extremității cefalice sunt caracteristice sindromului Marfan. Diagnosticul a fost confirmat pe baza investigațiilor genetice și radiologice. Aspecte clinice asemănătoare au fost observate în cadrul antecedentelor heredo-colaterale (mama și sora mai mare a pacientei). Aceste elemente pledează pentru transmiterea ereditară a acestui sindrom.
Corecția disgnației și a aspectului facial s‐a realizat urmând etape precise terapeutice. Acesta a cuprins tratament ortodontic secvențializat și intervenția chirurgicală bimaxilară în scop ortognatic.
Tratamentul multimodal, urmat riguros, a dus la îmbunătățirea majoră a aspectului facial al pacientei, și de asemenea la stabilitatea rezultatului ortodontic-ortognatic, pentru că, prin această terapie complexă s‐a acționat direct asupra bazelor osoase craniene ce au determinat anomalia dento-scheletală.
Marfan syndrome has autosomal dominant inheritance with extremely high penetrance . A patient who has asymmetrical affectation is probably an example of somatic mosaicism . A major criteria for the inheritance of this disease is having a parent, or a sib who meets these diagnostic criteria independently [3,4].
Specific studies are required for the diagnosis ; cardiac evaluation, including echocardiography as well as radiographs of the pelvis and MRI or CT of the lower vertebral column .
The Steinberg sign (the entire nail of the thumb projects beyond the ulnar border of the hand when the hand is clenched without assistance) and the Walker-Murdock sign (the thumb overlaps the terminal phalanx of the fifth digit when grasping the contralateral wrist) are more simple and more helpful, but they are of limited value in differentiating Marfan syndrome from other hypermobility conditions .
This disease affects the entire body, and cases have been reported in history noting personalities like Abraham Lincoln, that was known to have a Marfan-like habitus and the famous violin virtuoso Nicolo Paganini, that had long fingers and hyperextensible joints .
A 26 year old woman was referred to our hospital for orthognathic treatment after 14 months of presurgical orthodonthic treatment.
Physical examination showed pronounced maxilla retrusion and mandible retrusion, a large “gummy smile”, dolichocephalism with deep set eyes and downslanting palpebral openings, malar hypoplasia. Intraorally, we observed a high arched and narrow palate, dental crowding, oral breathing conditions and clinical symptoms of class II malocclusion, division 1.
Additionally the clinical investigation shows pectus excavatum of moderate severity, joint hypermobility with both thumb and wrist signs positive, myopia, large upper body segment, arachnodactily, scoliosis, striae atrophicae stretch marks) and family history of resemblance in appearance due to her mother and older sib.
Lateral cephalometrical radiograph examination revealed marked bimaxillary retrusion and skeletal class II anomaly (Figure 1). The patient had been referred for examination and the presumptive diagnosis was confirmed. The cardiac evaluation showed no modifications.
The CT investigation of the vertebral column revealed dolichostenomegalia, with enlarged vertebrae and widened spinal cord and scoliosis.
All these findings lead to this bone affecting syndrome. The genetic evaluation mapped the disorder at the 15q21 chromosome, and a diminished amount of microfibrils was reported as well. Microfibrilin assembly is disturbed in Marfan syndrome. The genic mutations confirm the intragenic heterogeneity of the disease once again.
After obtaining these results the surgical team proceeded in surgical planning after performing cephalometric measurements and cranial CT scanning with 3D reconstruction. The patient reports pain at the temporo-mandibular joint.
Photographs show a large gummy-smile and a characteristic long face (Figure 2). The vertical excess presents itself with a convex profile, lower facial height increased, constricted alar base, excessive incisor show, excessive gingival show, lip incompetence, long, vertical and retruded chin.
The mandible deficiency is shown clinical by a deep labiomental crease, everted lower lip and mentalis strain with lip closure.
Before the surgical approach she presented deep bite with an accentuated Spee curve, maxillary arch constriction and periodontal affectation at the upper and lower incisors. The cephalometric analysis reveals skeletal retropositioning of the maxilla and retrognathic mandible. The growth axis is forward. The maxilla is situated distal from the cranial base and a high mandibular plane is observed.
The Sassouni analysis presents strong class II relationships, with long posteriorly maxilla and maxillary lip retruded. The mandible length related to cranium is short anteriorly and long posteriorly.
In this case, it was important to improve the facial appearance in two spatial plans, vertical and sagital . These goals could not have been achieved without the combined orthodontic and orthognathic therapy . The defining step is the surgical approach.
The correction of the above discussed dysgnathia followed precise steps in order to obtain a stable and medical correct result, besides the esthetic improvement.
The orthodontic therapy forms the dental arches and decompensates the skeletal anomaly. The extraction of all four third molars was performed during this stage of treatment. Four weeks before the surgery acrylic trays have been placed to register the TMJ in the physiologic position.
The surgical procedure followed, performing Le Fort I osteotomy with maxillary advancement (Figure 3)
Alar base suture was made intraoperative, as well as the reduction of the gummy smile.
After the postoperatively healing period, the orthodonthic treatment follows the final leveling of the dental arches and the annulment of premature dental interferences.
The situation after ending the combined treatment shows a harmonized facial appearance, with a shortened and proportioned face length. (Figure 5) The cranial massive became harmonious due to changes made in vertical and sagital plan.
The face profile is relaxed and harmonized (Figure 6) and the lip closure is made without effort. We obtained neutral occlusal relationships. The patient followed a long term treatment with Calcium and vitamin D to prevent bone resorption, because Marfan patients may develop bone loss and osteoporosis .
The patient is pleased with her appearance and with the interruption of the recurrent respiratory affections occurred before the surgery as well as snoring. This desideratum has been obtained by advancing the upper jaw that led to the increase of the nasal cavity volume that guides to a better respiration.
The TMJ pain decreased and stopped after the surgical procedure.
Marfan syndrome is a rare disease affecting the entire body and has an important echo to the face.
The combined therapy in patients with skeletal anomalies and bone maturity is becoming more and more popular among the modern contemporary techniques. The motives are esthetic, functional and increase the self esteem.
The present article presents the entire picture of the Marfan syndrome with respect to orthodontic and surgical procedures in order to improve the facial appearance, altered due to the skeletal modifications.
Although the results are spectacular, they present no stability if the exact steps described above are not followed. Highly important are the cephalometric measurements in diagnosing and planning the treatment for these anomalies.
Keeping in mind that the function comes before the esthetics, this leads us to the idea of conjunction of these two desiderates.