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Year : 2014  |  Volume : 1  |  Issue : 3  |  Page : 206-208

Apert syndrome: A rare anomalad


Department of Prosthodontics, Faculty of Dental Sciences, King George's Medical University Uttar Pradesh, Lucknow, Uttar Pradesh, India

Date of Web Publication17-Aug-2014

Correspondence Address:
Himanshi Aggarwal
Room No. 404, E block, Gautam Buddha Hostel, King George's Medical University, Lucknow - 226 003, Uttar Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2348-3334.138909

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  Abstract 

Apert syndrome is a developmental malformation characterized by craniosynostosis, a cone shaped calvarium, midface hypoplasia, pharyngeal attenuation, ocular manifestations and syndactyly of the hands and feet. The complex craniofacial and systemic deformities seen in Apert syndrome mandate a multidisciplinary approach to improve the quality of life of patients. This paper presents the case of a 27-year-old male patient who presented with the complaints of malaligned teeth, difficulty in chewing food, facial deformity along with syndactyly of the hands and toes, and was diagnosed as a case of Apert syndrome.

Keywords: Apert syndrome, apertognathia, craniosynostosis, syndactyly


How to cite this article:
Aggarwal H, Singh SV, Kumar P. Apert syndrome: A rare anomalad. CHRISMED J Health Res 2014;1:206-8

How to cite this URL:
Aggarwal H, Singh SV, Kumar P. Apert syndrome: A rare anomalad. CHRISMED J Health Res [serial online] 2014 [cited 2019 Nov 15];1:206-8. Available from: http://www.cjhr.org/text.asp?2014/1/3/206/138909


  Introduction Top


Apert syndrome is a developmental malformation characterized by craniosynostosis, a cone shaped calvarium, midface hypoplasia, pharyngeal attenuation, ocular manifestations and syndactyly of the hands and feet. [1] Mutations of either Ser252Trp or Pro253Arg in the fibroblast growth factor receptor 2 (FGFR2) gene are responsible for nearly all known cases of Apert syndrome. [2] It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. [3] Disturbances in the development of the branchial arches during fetal development lead to lasting and widespread effects.

In 1906, Eugθne Apert, a French physician, first described nine people sharing similar attributes and characteristics. [3] The incidence of infants born with Apert syndrome is approximately 1 in 50,000 to 80,000 live births. [4] The inheritance of Apert syndrome is usually autosomal dominant, but sporadic, fresh cases are also frequent.

The cranial malformations are the most apparent effects of acrocephalosyndactyly. Craniosynostosis occurs, with brachycephaly being the common pattern of growth. Another common characteristic is a high, prominent forehead with a flat posterior skull. Due to the premature closing of the coronal sutures, increased cranial pressure can cause mental deficiency. A flat or concave face may develop as a result of deficient growth in the mid-facial bones. Other features of acrocephalosyndactyly may include shallow bony orbits and broadly spaced eyes. Low-set ears are also a typical characteristic of branchial arch syndromes. All acrocephalosyndactyly syndromes show some level of limb anomalies. However, the typical hand deformities in patients with Apert syndrome distinguish it from the other syndromes such as Crouzon syndrome and Pfeiffer syndrome. [5]


  Case Report Top


A 27-year-old male patient presented with the complaints of difficulty in chewing food, mal-aligned teeth and facial deformity. His medical history revealed that he has been suffering from these problems since birth and had never undergone any corrective surgery. Other family members did not show any features of craniofacial deformity. On examination, he was found to have flattened occiput with frontal prominence, brachycephaly, shallow orbits with bilateral proptosis, hypertelorism, parrot beaked nose, depressed nasal bridge, retruded midface and incompetent everted lips [Figure 1]. He showed complete bilateral syndactyly of fingers and toes that is characteristic of a mitten hands [Figure 2]a and sock feet appearance [Figure 2]b. Palms was deeply concave (cup shaped deformity) [Figure 3] and nail beds were contiguous (Synonychia). Intraoral examination showed an apertognathia/anterior open bite of 2 cm [Figure 4]a, mandibular prognathism with deranged occlusion, bulky high arched V-shaped palate with submucosal occult cleft and rotated maxillary and mandibular incisors [Figure 4]b. There were no other associated congenital anomalies.
Figure 1: (a) Frontal view of patient showing bilateral proptosis and parrot beaked nose (b) Profile of patient showing midface hypoplasia and flat occiput

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Figure 2: (a) Syndactyly of fingers (b) Syndactyly of toes

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Figure 3: Cup-shaped deformity of palm and synonychia

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Figure 4: (a) Intraoral view showing anterior open bite (b) Intraoral view showing high arched palate and rotated incisors

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On investigation, an orthopantomogram revealed maxillary deformity with malaligned teeth and an anterior open bite [Figure 5]. A concave profile with midface deficiency and mandibular prognathism was visible in a lateral cephalogram [Figure 6]a. The AP skull view showed copper beaten appearance of skull in addition to other features [Figure 6]b. Based on clinico-radiological evaluation, the patient was diagnosed to be a case of Apert syndrome. Crouzon's syndrome was ruled out due to presence of syndactyly of hands and feet.
Figure 5: Orthopantomogram showing apertognathia and rotated incisors

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Figure 6: (a) Lateral cephalogram showing concave profile with midface hypoplasia and mandibular prognathism (b) AP skull view showing copper-beaten appearance and apertognathia

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Orthognathic surgery was planned for the patient to mainly overcome the difficulty in eating.


  Discussion Top


Apert syndrome and other acrocephalosyndactyly syndromes are rare conditions. Although i, many of the infants born with this syndrome show sporadic occurence, which means that a family may have a child with Apert syndrome when no other members of the family are affected. In 1995, A.O.M. Wilkie found that acrocephalosyndactyly is caused by a mutation in the fibroblast growth factor receptor 2 gene located on chromosome 10. [6] The recurrent risk of having another child with Apert for two unaffected parents is negligible. However, if the parent is affected, there is a 50% chance of each offspring having Apert syndrome with both males and females being affected equally.

The treatment of patients with Apert syndrome cannot be uniform due to significant variation in the facial anomalies, age of the patients, and previous corrections. The primary concerns for an infant born with this syndrome involve compression of the brain, breathing problems, protruding eyes with corneal exposure and lack of facial growth. The surgical plan must be flexible and individualized for the patient. Multiple stages as well as operations at different ages are usually necessary.

Ideally, the treatment of Apert syndrome should begin at birth itself. Various multidisciplinary surgical interventions include fronto-parieto-orbital advancement early in life to allow for normal brain development, correction of syndactyly by plastic surgery, treatment of facial dysmorphisms by cosmetic reconstruction, orthodontics and orthognathic surgery. [1],[2]

The patient with Apert syndrome represents a complex combination of multiple deformities. The goal should be to treat not only the functional and physical problems but the psychosocial issues as well. These individuals are best evaluated and treated at a craniofacial center that utilizes the multidisciplinary team approach providing a coordinated, comprehensive, long-term treatment plan with careful monitoring of growth and development.


  Conclusion Top


The complex craniofacial and systemic deformities seen in Apert syndrome mandate a multidisciplinary approach to improve the quality of life of patients. An early diagnosis and treatment of the cases obviously leads to a better prognosis.

 
  References Top

1.Batra P, Duggal R, Parkash H. Dentofacial characteristics in Apert syndrome: A case report. J Indian Soc Pedod Prev Dent 2002;20:118-23.  Back to cited text no. 1
[PUBMED]    
2.Chen L, Li D, Li C, Engel A, Deng CX. A ser250trp [corrected] substitution in mouse fibroblast growth factor receptor 2 (FGFR2) results in craniosynostosis. Bone 2003;33:169-78.  Back to cited text no. 2
    
3.Apert E. De l' acricephalosyndactylie. Bull Soc Med Hop Paris 1906; 23:1310-30.  Back to cited text no. 3
    
4.Rebelo N, Duarte R, Costa MJ, Leal MJ. Acrocephalosyndactyly-the coalesced hand. Eur J Pediatr Surg 2002;12:49-55.  Back to cited text no. 4
    
5.Kaplan LC. Clinical assessment and multispecialty management of Apert syndrome. Clin Plastic Surg 1991;18:217-25.  Back to cited text no. 5
    
6.Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 1995;9:165-72.  Back to cited text no. 6
    


    Figures

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


This article has been cited by
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Prosthetics and Orthotics International. 2016; 40(6): 763
[Pubmed] | [DOI]



 

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