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 Table of Contents  
CASE REPORT
Year : 2016  |  Volume : 28  |  Issue : 1  |  Page : 83-85

Apert's syndrome: A rare case


1 Department of Oral Medicine and Radiology, Swami Devi Dyal Hospital and Dental College, Panchkula, Haryana, India
2 Department of Prosthodontics, Bapuji Dental College and Hospital, Davangere, Karnataka, India

Date of Web Publication8-Sep-2016

Correspondence Address:
Tarun Kumar
Department of Oral Medicine and Radiology, Swami Devi Dyal Hospital and Dental College, Panchkula, Haryana
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-1363.189995

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   Abstract 

Apert's syndrome is a rare type I acrocephalosyndactyly syndrome characterized by craniosynostosis, severe syndactyly of the hands and feet, and dysmorphic facial features. The purpose of this report is to present an Apert's syndrome patient by highlighting the craniofacial characteristics and oral health care measures for these patients.

Keywords: Apert's syndrome, facial features, oral care


How to cite this article:
Kumar T, Arora N, Puri G, Konidena A. Apert's syndrome: A rare case. J Indian Acad Oral Med Radiol 2016;28:83-5

How to cite this URL:
Kumar T, Arora N, Puri G, Konidena A. Apert's syndrome: A rare case. J Indian Acad Oral Med Radiol [serial online] 2016 [cited 2022 Jul 3];28:83-5. Available from: https://www.jiaomr.in/text.asp?2016/28/1/83/189995


   Introduction Top


Craniosynostosis is the term that designates premature fusion of one or more sutures. Reduced or asymmetrical skull growth ensues, causing deformity of the skull vault or the base. In 1851, Virchow noted that there is cessation of growth in a direction perpendicular to that of the affected suture while growth proceeds in a parallel direction. There are also distinct craniofacial synostosis syndromes that share common features such as suture synostosis, midface hypoplasia, and facial and limb abnormalities. Apert's syndrome is one such syndrome which is characterized by craniosynostosis, midface hypoplasia, and symmetric syndactyly of both hands and feet.


   Case Report Top


A 60-year-old patient reported to the Department of Oral Medicine and Radiology with a chief complaint of missing teeth since 10 years. Patient gave history of extraction of multiple teeth in mouth since last 15 years due to increased mobility, the healing of which was uneventful. Presently, patient experienced difficulty while chewing food since 10 years and wanted a new set of artificial teeth. Medical and dental history was non-contributory. On general physical examination, patient was moderately built and moderately nourished with short stature and normal gait. The hands and feet showed complete syndactyly. All the vital signs were within normal limits.

On extraoral examination, patient was brachycephalic with mesoprosopic face. Lateral profile of the patient showed short neck and midface deficiency [Figure 1] and [Figure 2]. Bilateral synchronous movements of the mandible were evident [Figure 3] and [Figure 4]. No abnormality was detected with respect to the muscles of mastication and lymph nodes. Intraoral examination revealed soft flabby ridge in the right and left maxillary molar regions with central depression of the hard palate [Figure 5]. Root stumps were present with respect to the 11, 12, 21, and 22 region. Mandibular arch was completely edentulous. Mild to moderate ridge resorption was present with respect to the maxillary and mandibular residual alveolar ridges [Figure 6]. On the basis of clinical examination and phenotypic character of the patient, a diagnosis of Apert's syndrome was given.
Figure 1: Frontal profile picture

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Figure 2: Lateral profile picture

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Figure 3: Syndactyly in hands

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Figure 4: Syndactyly in feet

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Figure 5: Intraoral: Maxilla depicting soft flabby ridges

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Figure 6: Mandibular arch depicting mild to moderate ridge resorption

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Radiological investigations were carried out. Intraoral occlusal radiograph showed submucosal clefting of the palate with root stumps with respect to 11, 12, 21, and 22. Panoramic and lateral cephalogram showed hypoplasia of the zygomatic, maxillary, and mandibular bones. Posteroanterior view with respect to hands and feet showed syndactyly with fusion of phalanges. Root stumps were extracted under local anesthesia and patient was recalled after 3 weeks. On complete post-extraction healing, patient was rehabilitated with complete dentures.


   Discussion Top


Apert's syndrome was described by Wheaton in 1894.[1] In 1906, Apert published a summary on nine cases.[2] Apert's syndrome makes up approximately 4% of all cases of craniosynostosis. The incidence is reported to be 1/160,000 live births.[3] The molecular basis of this syndrome appears remarkably specific: Two adjacent amino acid substitutions (either S252W or P253R) occurring in the linking region between the second and third immunoglobulin domains of the fibroblast growth factor (FGR) 2 gene.[4] Radiology has an important role to play in the evaluation, management, and follow-up of these patients. Plain radiographs are sufficient for diagnosis, but CT has added a new dimension to the evaluation of these disorders.[5]

The clinical and oral features of Apert's syndrome are well established and in agreement with the case described in the present report. The syndrome is clinically characterized by premature fusion of the coronal suture and hypoplastic midface.[6],[7] These are the main reasons for the previous surgical procedures mentioned by the patient. Ocular anomalies and short nose with depression of the nasal bridge could also be observed. Syndactyly, as described by Apert,[6],[7] was also present. The oral cavity characteristics included reduction in the size of the maxilla, which may result in tooth crowding and an anterior open bite of the maxilla.[8] Effective clinical management to improve oral health usually requires the joint work of a periodontist and an orthodontist.

For the patient with Apert's syndrome, oral hygiene is as important as it is difficult. Hand deformities make it difficult to brush the teeth. The new generation of electric tooth brushes and fluoride mouth rinses may make the task easier. Professional care, including frequent dental examinations, oral hygiene prophylaxis, fluoride treatments, and dental sealants, is very important.[9] Some affected individuals have anomalies of the viscera, elbows and shoulders, skeleton, and central nervous system, or abnormalities of the upper and lower respiratory tracts.[6],[10] However, the case reported here did not present any related complaint of these anomalies during clinical examination.


   Conclusion Top


Apert's syndrome is a rare autosomal dominant disorder affecting many parts of the body. The integral healthcare delivery should include a multidisciplinary approach provided by dentists, neurosurgeons, plastic surgeons, ophthalmologists, and geneticists for the effective planning and treatment of such patients.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
   References Top

1.
Wheaton SM. Two specimens of congenital cranial deformity in infants associated with fusion of fingers and toe. Trans Pathol Soc 1894;45:238-41.  Back to cited text no. 1
    
2.
Apert E. De l' acricephalosyndactylie. Bull Soc Med Hop Paris 1906;23:1310-30.  Back to cited text no. 2
    
3.
Bartlett SP, Mackay GJ. Craniosynostosis syndromes. In: Aston SJ, Beasley RW, Thorne CH, editors. Grabb and Smith's Plastic Surgery. 5th ed. Philadelphia: Lippincott-Raven; 1997. p. 295-304.  Back to cited text no. 3
    
4.
Lajeunie E, Cameron R, El Ghouzzi V, de Parseval N, Journeau P, Gonzales M, et al. Clinical variability in patients with Apert's syndrome. J Neurosurg 1999;90:443-7.  Back to cited text no. 4
[PUBMED]    
5.
Upadhyaya V, Upadhyaya DN, Sarkar S. Apert's syndrome - A case report. Ind J Radiol Imag 2005;4:477-80.  Back to cited text no. 5
    
6.
DeGiovanni CV, Jong C, Woollons A. What syndrome is this? Apert syndrome. Pediatr Dermatol 2007;24:186-8.  Back to cited text no. 6
[PUBMED]    
7.
Freiman A, Tessler O, Barankin B. Apert syndrome. Int J Dermatol 2006;45:1341-3.  Back to cited text no. 7
    
8.
Albuquerque MA, Cavalcanti MG. Computed tomography assessment of Apert syndrome. Braz Oral Res 2004;18:35-9.  Back to cited text no. 8
[PUBMED]    
9.
Tosun G, Sener Y. Apert syndrome with glucose-6-phosphate dehydrogenase deficiency: A case report. Int J Paediatr Dent 2006;16:218-21.  Back to cited text no. 9
[PUBMED]    
10.
Carneiro GV, Farias JG, Santos FA, Lamberti PL. Apert syndrome: Review and report a case. Braz J Otorhinolaryngol 2008;74:640.  Back to cited text no. 10
[PUBMED]    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]


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