|Year : 2020 | Volume
| Issue : 4 | Page : 430-433
Apert's syndrome: A rare craniofacial disorder
Prajakta C Khelkar, Aaditi N Kadam, Freny R Karjodkar, Kaustubh P Sansare
Department of Oral Medicine and Radiology, Nair Hospital Dental College, Mumbai, Maharashtra, India
|Date of Submission||06-Oct-2020|
|Date of Decision||26-Dec-2020|
|Date of Acceptance||26-Dec-2020|
|Date of Web Publication||5-Jan-2021|
Dr. Prajakta C Khelkar
Department of Oral Medicine and Radiology, Nair Hospital Dental College, Opposite Maratha Mandir, Mumbai - 400 012, Maharashtra
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Apert's syndrome (AS) which is a rare congenital disorder is a form of acrocephalosyndactyly. This syndrome is characterized by craniosynostosis, midface hypoplasia, and syndactyly of hands and feet. We report a case of 13-year-old boy in India presenting features of AS such as exophthalmos, hypertelorism, strabismus, steep forehead, parrot beak nose, depressed nasal bridge, and retruded middle third of the face. The purpose of this report is to present a case of AS by highlighting the craniofacial characteristics.
Keywords: Acrocephalosyndactyly, Apert's syndrome, craniosynostosis, exophthalmos, hypertelorism, micrognathia
|How to cite this article:|
Khelkar PC, Kadam AN, Karjodkar FR, Sansare KP. Apert's syndrome: A rare craniofacial disorder. J Indian Soc Pedod Prev Dent 2020;38:430-3
|How to cite this URL:|
Khelkar PC, Kadam AN, Karjodkar FR, Sansare KP. Apert's syndrome: A rare craniofacial disorder. J Indian Soc Pedod Prev Dent [serial online] 2020 [cited 2021 Jan 22];38:430-3. Available from: https://www.jisppd.com/text.asp?2020/38/4/430/306223
| Introduction|| |
According to Cohen, the incidence of Apert's syndrome (AS) is about 15 per 1,000,000 live births. It is named after the French physician Eugene Apert, who described nine people with a similar disorder in 1906.
More than 98% of cases with AS are caused by specific missense substitution mutations, involving adjacent amino acids (i.e., Ser252Trp, Ser252Phe, Pro253Arg) involving fibroblast growth factor receptor 2 (FGFR2).
Craniofacial deformities specific to AS include acrocephaly, prominent forehead, proptosis, hypertelorism, and flattened nose with a low bridge. The oral signs are pseudocleft, high-arched palate, transverse and sagittal maxillary hypoplasia, dental crowding, delay in eruption, ectopic teeth, and teeth crowding. The midface hypoplasia results in the appearance of retruded middle third of the face and relative mandibular prognathism. The lips frequently assume a trapezoid configuration because the upper lip is lifted in the midline. Syndactyly involves hand and feet with partial-to-complete fusion of the digits, mainly second, third, and fourth digits. These are termed as mitten hands and sock feet. Radiographs of the hands, feet, and skull show syndactyly of hands and feet, malformation of midfacial bones, and craniosynostosis of the skull.
The presence of cleft or pseudocleft palate along with fusion of C5–C6 and syndactyly of hands and feet are common findings in AS and help to differentiate AS from Crouzon syndrome.
| Case Report|| |
A 13-year-old patient reported to the Department of Oral Medicine and Radiology in our institution with a chief complaint of pain in teeth along with difficulty while chewing food for the past 2 days.
His medical history revealed that he had undergone suturotomy surgery for relieving craniosynostosis 12 years ago. His parents revealed that he had premature birth along with a history of dyspnea and snoring while sleeping. No other family members were affected by tor showed the same features.
On general physical inspection, the patient was moderately built with short stature and had spastic type of gait.
On extraoral examination inspection [Figure 1]a and [Figure 1]b, it was noted that he had a flattened occiput, abnormal contour of head (brachycephalic skull), and retruded midface giving an appearance of pseudoprognathic mandible. He had shallow and downward slanting orbits with bilateral exophthalmos and proptosis, hypertelorism, and strabismus. The nasal bridge was markedly depressed with short and wide bulbous nose tip, which gave a parrot beak appearance. His lips were noted to be incompetent. His hands and feet showed syndactyly of all digits (except thumb and toes) [Figure 1]c and [Figure 1]d.
|Figure 1: (a) Front profile, (b) side profile, (c and d) syndactyly in hands and feet with complete fusion of the second, third, and fourth digits|
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On intraoral examination [Figure 2]a and [Figure 2]b, it was observed that his mouth opening was adequate. The maxillary alveolar ridge was V shaped and bulbous which gave an appearance of pseudocleft at the midline of palate, while mandibular alveolar ridge was bulbous and not much appreciated due to his large and hypermobile tongue. Severe malocclusion was noted due to constricted dental arches. Root stumps of right central incisor, right second premolar and left second premolar along with grossly carious maxillary right canine and right first premolar were noted in the maxillary arch. All the teeth showed presence of soft debris and calculus.
|Figure 2: (a) Intraoral view of the maxilla showing bulbous alveolar rigde with pseudocleft in midline. (b) Intraoral view of the mandible showing hypermobile and enlarged tongue|
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The following radiographs were taken.
Maxillary cross-sectional occlusal radiograph [Figure 3] showed a root piece with maxillary right and left central incisor along with crowding and rotated maxillary right and maxillary left canine.
|Figure 3: Maxillary anterior occlusal radiograph showing root pieces and crowding|
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- Lateral cephalogram [Figure 4] showed:
|Figure 4: Lateral cephalograph showing midface hypoplasia and incompetent lips|
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- Midfacial deformity, depicted as a concave profile with retruded midfacial bone and resultant pseudoprognathic mandible
- The shadow of the lips showed incompetency
- Multiple thin linear radiopacities were noted in region near the vertex of skull, suggestive of surgical metallic pins
- Radiopacity near the orbit in the form of screw and plate, suggestive of surgical plating.
- Panoramic radiograph [Figure 5] showed linear radiolucency between maxillary right and left central incisor suggestive of cleft palate, root piece with maxillary right and left central incisor, mandibular right and left first molar, erupting maxillary right and left third molar, right and left third molar, rotated teeth with mandibular left lateral incisor, mandibular left canine, and mandibular right lateral incisor and canine
- Posteroanterior view X-ray of patient's hands [Figure 6] showed syndactyly with fusion of phalanges.
The patient was advised extraction of root pieces and endodontic treatment of carious teeth. Since patient's parent was not ready for any interventional procedures, only oral prophylactic measures were carried out and he was advised to be under regular follow-up. Consent was taken from the patient's parent for the photographic images.
| Discussion|| |
AS is a hereditary form of craniosynostosis that can be inherited in an autosomal dominant fashion. The risk of a second child being affected is 1%.
The molecular basis of this syndrome appears remarkably specific: FGFR2 gene enables coding of a protein called fibroblast growth factor receptor-2 gene. This protein is responsible for the formation of blood vessels, wound healing, embryonic evolution, and regulation of cellular division, growth, and maturation. FGFR plays an important role in signal pathways which function in the fusion process of skull bones.
In AS, there is often no suture in the metopic or sagittal regions, but there are sutures in the coronal, lambdoid, squamosal, and sphenotemporal regions. The anterior cranial fossa is very short with consequent shallow orbits, ocular proptosis, orbital hypertelorism, downslanting palpebral fissures, and interruption of the eyebrows.,
In these patients, midface is hypoplastic and the nasal bridge is depressed. There is an overall tendency for the ears to be large and low set. These findings are in accordance with our current case. The most common cervical spine abnormality in this syndrome is intervertebral fusion which was evident radiographically in our patient.
Dental anomalies include crowding of teeth, especially in the maxilla, which is in accordance with the current case. In patients with AS, upper respiratory tract infections, sleep apnea, and malnutrition can be seen. In our case, apart from mild degrees of dyspnea and snoring, no other symptom was not noted.
A significant proportion of patients with AS have mental retardation. It is reported that 52% of the patient's IQ has been lower than 70. Our patient was found to be mentally challenged to some extent. Furthermore, these patients experience significant social problems and speech difficulties.
Radiology has an important role to play in the evaluation of these patients. Plain skull radiographs including anteroposterior (AP), lateral, and Towne's projections are usually done. In our case, midfacial deformity depicted as a concave profile with retruded midfacial bone and resultant pseudoprognathic mandible was noted. Lips were noted to be incompetent in lateral cephalogram. Syndactyly of the feet and hand with fusion of phalanges can be appreciated in AP view of hand.
Tosun and Sener's study showed that AS was in parallel with glucose-6-phosphate dehydrogenase (G6PD) deficiency. G6PD deficiency is an enzymatic hereditary disorder, leading to hemolytic anemia as a result of red blood cell destruction. The main problem in G6PD deficiency is that hemolysis can be precipitated by a number of factors, such as oxidant drugs, eating fava beans, or intercurrent infection. Drugs that may induce hemolysis include sulfonamides, chloramphenicol, aspirin, acetaminophen, penicillin, and streptomycin. Therefore, the dentist must avoid drugs that may potentially induce hemolysis as a result of G6PD deficiency.
The necessity for a dentist to be capable of recognizing and dealing with genetic disease is becoming increasingly important due to the huge number of recognized genetic traits and diseases that involve oral facial structures.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient's parents have given consent for images and other clinical information to be reported in the journal. The patient's parents understand that the names and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]