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 Table of Contents  
CASE REPORT
Year : 2022  |  Volume : 9  |  Issue : 3  |  Page : 261-265

Craniofacial Manifestation and Orthosurgical Management of a Patient with Achondroplasia


1 Command Military Dental Centre, Chandi Mandir, Haryana, India
2 Department of Orthodontics and Dentofacial Orthopedics, Armed Forces Medical College, Pune, Maharashtra, India
3 Command Military Dental Centre, Udhampur, Jammu and Kashmir, India
4 01 Corps Dental Unit, Mathura, Uttar Pradesh, India

Date of Submission06-Mar-2022
Date of Decision18-Jul-2022
Date of Acceptance11-Aug-2022
Date of Web Publication14-Nov-2022

Correspondence Address:
Varun Govindraj
Command Military Dental Centre, Chandimandir Cantonment, Chandi Mandir, Jammu and Kashmir
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jdrr.jdrr_40_22

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  Abstract 


Achondroplasia is a bone growth disorder results due to failure in endochondral ossification, conversion of cartilages into mature bones. It is the most common metaphyseal dysplastic condition of long bones. The incidence of achondroplasia is 1:25000–30,000 of live births. Our patient was a diagnosed case of achondroplasia, characterized by short stature, disproportionately short arms and legs, and short fingers. Craniofacial features include prominent forehead (frontal bossing), short cranial base, short nose, depressed nasal bridge, short upper lip leading to increased incisal show along with gingival visibility and hyperactive mentalis. Intraoral examination revealed constricted maxillary arch, multiple missing teeth, increased overjet of 12 mm, nonspecific molar, and canine relation bilaterally. Therapeutic intervention included orthosurgical management, i.e., Stage I (presurgical orthodontics)-leveling and alignment followed by closure of extraction spaces; Stage II (surgical management)–le fort-1 osteotomy and maxillary superior repositioning of 6 mm followed by 5 mm bilateral sagittal split ramus osteotomy with anticlockwise rotation of body of the mandible; and Stage III–settling of occlusion and fixed retention in maxillary and mandibular arch. Present case highlights the craniofacial manifestations of achondroplasia its effective management and the potential complications associated. Treating orthodontist should be aware of these features and their consequences in managing the patient to achieve a successful outcome.

Keywords: Achondroplasia, bone growth disorder, management of achondroplasia


How to cite this article:
Govindraj V, Datana S, Sharma M, Chauhan D. Craniofacial Manifestation and Orthosurgical Management of a Patient with Achondroplasia. J Dent Res Rev 2022;9:261-5

How to cite this URL:
Govindraj V, Datana S, Sharma M, Chauhan D. Craniofacial Manifestation and Orthosurgical Management of a Patient with Achondroplasia. J Dent Res Rev [serial online] 2022 [cited 2023 Jan 30];9:261-5. Available from: https://www.jdrr.org/text.asp?2022/9/3/261/361135




  Introduction Top


Achondroplasia is a bone growth disorder results due to failure in endochondral ossification and conversion of cartilages into mature bones.[1] It is the most common metaphyseal dysplastic condition of long bones characterized by short stature, disproportionately short arms and legs, short fingers, limitation in joint extensions, thoracolumbar kyphosis, hypotonia, and macrocephaly. It is an autosomal dominant trait affecting both sexes.[2] The incidence of achondroplasia is 1:25000–30,000 of live births.[3] Majority of the cases are heterozygous type, accounting for 50%-60% of cases occurring due to mutation of single alle (de novo mutation) leading to restrictive pulmonary disease and cranio-cervical junction constriction.[2],[3] Risk for homozygous achondroplasia when both parents have achondroplasia is 25%, with high degree of fatality due to severe skeletal deformity.[4] Individuals with achondroplasia have mutations in fibroblast growth factor receptor type 3 (FGFR3) gene receptors, which shortens the chondrocyte proliferative phase and accelerates the cells to attain terminal differentiation, which is normally restricted during normal growth by binding of FGF factors – 2, 9, 18 onto FGFR-3 receptors. Mutation of FGFR-3 receptors leads to independent activation of these receptors, resulting in impaired endochondral bone formation, leading to skeletal dysplasia.[5] Craniofacial features include prominent forehead (frontal bossing), depressed nasal bridge, short cranial base, maxillary hypoplasia, foramen magnum constriction, and otolaryngeal disorders. These malformations may lead to hydrocephalus, upper airway obstruction, sinusitis, otitis media, and dental malocclusion.[6]

This paper reports a case of achondroplasia with vertical maxillary excess rehabilitated with orthosurgical plan.


  Patient Details Top


A 23-year-old female patient reported with the chief complaint of excessive display of upper front teeth. The patient was the youngest of 5 siblings. Her parents gave no history of consanguineous marriage. Her mother had full-term pregnancy with normal delivery. Medical history revealed that she is a known case of achondroplasia, with no history of previous surgeries. At present, she is working as a teacher in a local community school; her emotional and cognitive development was normal. The patient appeared to be sociable and healthy.

Clinical findings and diagnostic assessment

Physical characteristics depicted typical feature of achondroplastic dwarf (height 2'8”) with short limbs [Figure 1]. Extraoral examination revealed frontal bossing, symmetrical face in horizontal 5th, increased lower facial height, straight profile, short nose, depressed nasal bridge, nasal tip deviated to the left, upturned nose with increased visibility of nostrils, incompetent lips (short upper lip with increased interlabial gap of 18 mm), complete incisal show with 6 mm of gingival visibility, centered maxillary dental midline, and mandibular midline shifted to the right by 2 mm [Figure 2]a, [Figure 2]b, [Figure 2]c. Intraoral examination revealed multiple missing teeth with a history of extraction due to caries, multiple restorations, constricted maxillary arch, palatally erupted 12 and 22 with increased overjet of 12 mm, overbite of 25%, nonspecific molar, and canine relation bilaterally [Figure 2]d, [Figure 2]e, [Figure 2]f, [Figure 2]h. Cephalometric analysis of lateral cephalograph confirms hypoplastic maxilla, orthognathic mandible, skeletal Class III bases, maxillary dentoalveolar protrusion with supraerupted incisors, and upright mandibular incisors with supraerupted mandibular incisors and molars [Figure 2]i.
Figure 1: Characteristic features of achondroplastic patient. (a) Stunted growth. (b and c) Short upper and lower limb

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Figure 2: Extraoral, (a) frontal photo, (b) smile photo, (c) profile photo intraoral, (d) right lateral, (e) frontal, (f) left lateral, (g) maxilla, (h) mandible, (i) pretreatment lateral cephalogram

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Informed consent

Written consent was obtained from the patient after explaining the treatment protocols and total duration of the treatment.

Therapeutic intervention

The treatment plan customized for the patient included orthosurgical management in concurrence with surgical team. Stage I (presurgical orthodontics): The patient was bonded with 0.022 MBT PEA, leveling, and alignment followed by intrusion and retraction of maxillary incisors and closure of extraction spaces in maxillary and mandibular arch. Total duration of pre surgical stage was 22 months [Figure 3]. Following stage I model, surgery was performed as planned for the fabrication of intermediate and final splints [Figure 4].
Figure 3: Presurgical Intraoral photographs intraoral, (a) Right lateral, (b) frontal, (c) left lateral

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Figure 4: Model surgery, (a) 6 mm maxillary superior repositioning, (b) 3 mm BSSRO with mandibular anticlockwise rotation. BSSRO: Bilateral sagittal split ramus osteotomy

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Stage II (Surgical management): Le Fort I (LF-1) osteotomy with 6 mm maxillary superior repositioning followed by 5mm bilateral sagittal split ramus osteotomy (BSSRO) with anticlock wise rotation of mandible to achieve optimal overjet and overbite. Stage III: Settling of occlusion and fixed retention in maxillary and mandibular arch followed by rehabilitation of missing 35. The total duration of postsurgical treatment was 8 months [Figure 5] and [Table 1].
Figure 5: Extraoral posttreatment, (a) frontal photo, (b) smile photo, (c) profile photo intraoral, (d) right lateral, (e) frontal, (f) left lateral, (g) maxilla, (h) mandible, (i) posttreatment lateral cephalogram

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Table 1: Pre-treatment and post treatment lateral cephagraph comparison

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Follow-up with patient perspective

Six months postdebonding review concludes improved facial esthetics with harmonized smile, boosting the patients morale and confidence as conveyed by patient herself.


  Discussion Top


The general physical characteristics of achondroplastic patients include stunted growth (dwarfism), shortened limbs due to defect in endochondral osteogenesis (defective cartilage proliferation of long bones).[7] Orofacial region is depicted with hypoplastic maxilla, short nose, and depressed nasal dorsum due to defective endochondral bone formation in the dentofacial region; however, the intramembranous bone formation is not affected; hence, the mandible remains orthognathic. The similar features were reported in our patient. These patients are often reported to have delayed development of motor as well as cognitive skills;[8] however, these features were not elicited in our patient. There was no delay in eruption of primary and permanent dentition. Patient displayed higher incidence of carious lesion resulting in extraction and restorations of multiple teeth. Literature reveals relative higher incidence of respiratory disorders among these patients, i.e., snoring, night wakefulness, and obstructive sleep apnea due to skeletal deformity;[9],[10] the same were elicited in our patient who was prescribed nasal drops for nasal decongestion due to frequent nasal blockage. The authors have reported successful management of achondroplastic cases after the age of 5 years with a definitive orthodontic treatment to improve the esthetics and function, along with or without orthognathic surgeries to correct the skeletal discrepancies, to improve the profile as well as to provide harmonious environment for the dentoalveolar structures.[11] Presurgical orthodontics was initiated in our patient to correct the constricted maxilla (canine region), decrowd the maxillary incisors followed by closure of extraction spaces in both the arches. Presurgical orthodontics was followed by LF-1 osteotomy and BSSRO to improve craniofacial function and esthetics. It has been highlighted that the decreased growth of basilar region of cranium results in craniocervical instability and stenosis of foramen magnum leading to compression of spinal cord and vertebral arteries causing hypoxic damage to central nervous respiratory centers in medulla leading to irreversible apnea.[12] These conditions may limit the head and neck extension resulting in respiratory complications which necessitates the measures like solid head and back rest, prevent sudden and jerky motions during procedures. Additional features such as anteriorly placed epiglottis, large tongue, mouth breathing, generalized gingivitis, enlarged tonsils, and restricted nasal pharynx have also been documented;[13] these features may pose challenges to orthodontist and to the maxillofacial surgeons.


  Conclusion Top


The presented case highlighted the features of achondroplasia, which enumerated the discrepancy in growth and skeletal features along with potential complications associated. Treating orthodontist should be well aware of these features and their consequences in managing the patient to achieve a favorable outcome.

Declaration of patient consent

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

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Goblin RJ, Pindborg JJ, Cohen MM. Syndromes of Head and Neck. 2nd ed. New York: McGraw-Hill Company; 1976. p. 12-6.  Back to cited text no. 1
    
2.
Pauli RM. Achondroplasia: A comprehensive clinical review. Orphanet J Rare Dis 2019;14:1.  Back to cited text no. 2
    
3.
Ireland PJ, Pacey V, Zankl A, Edwards P, Johnston LM, Savarirayan R. Optimal management of complications associated with achondroplasia. Appl Clin Genet 2014;7:117-25.  Back to cited text no. 3
    
4.
Bober MB, Taylor M, Heinle R, Mackenzie W. Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy. Am J Med Genet A 2012;158A: 2336-41.  Back to cited text no. 4
    
5.
Laederich MB, Horton WA. Achondroplasia: Pathogenesis and implications for future treatment. Curr Opin Pediatr 2010;22:516-23.  Back to cited text no. 5
    
6.
Hunter AG, Bankier A, Rogers JG, Sillence D, Scott CI Jr. Medical complications of achondroplasia: A multicentre patient review. J Med Genet 1998;35:705-12.  Back to cited text no. 6
    
7.
Trotter TL, Hall JG, American Academy of Pediatrics Committee on Genetics. Health supervision for children with achondroplasia. Pediatrics 2005;116:771-83.  Back to cited text no. 7
    
8.
Thompson NM, Hecht JT, Bohan TP, Kramer LA, Davidson K, Brandt ME, et al. Neuroanatomic and neuropsychological outcome in school-age children with achondroplasia. Am J Med Genet 1999;88:145-53.  Back to cited text no. 8
    
9.
Onodera K, Sakata H, Niikuni N, Nonaka T, Kobayashi K, Nakajima I. Survey of the present status of sleep-disordered breathing in children with achondroplasia Part I. A questionnaire survey. Int J Pediatr Otorhinolaryngol 2005;69:457-61.  Back to cited text no. 9
    
10.
Waters KA, Everett F, Sillence D, Fagan E, Sullivan CE. Breathing abnormalities in sleep in achondroplasia. Arch Dis Child 1993;69:191-6.  Back to cited text no. 10
    
11.
Dunbar JP, Goldin B, Subtelny JD. An American board of orthodontics case report. correction of class i crowding in an achondroplastic patient. Am J Orthod Dentofacial Orthop 1989;96:255-63.  Back to cited text no. 11
    
12.
Pauli RM, Horton VK, Glinski LP, Reiser CA. Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia. Am J Hum Genet 1995;56:732-44.  Back to cited text no. 12
    
13.
Butler MG, Hayes BG, Hathaway MM, Begleiter ML. Specific genetic diseases at risk for sedation/anesthesia complications. Anesth Analg 2000;91:837-55.  Back to cited text no. 13
    


    Figures

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

  [Table 1]



 

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