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Year : 2016  |  Volume : 7  |  Issue : 4  |  Page : 264-267

Craniofacial manifestations and dental considerations in association with achondroplasia: Clinical insight and report of a case

1 Department of Dental Surgery, North DMC Medical College, Hindu Rao Hospital, New Delhi, India
2 Department of Oral Medicine, Diagnosis and Radiology, Desh Bhagat Dental College and Hospital, Muktsar, Punjab, India

Date of Web Publication13-Dec-2016

Correspondence Address:
Nidhi Chhabra
Department of Dental Surgery, North DMC Medical College, Hindu Rao Hospital, New Delhi
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0976-433X.195680

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Achondroplasia is of clinical interest in dental practice because of its distinctive craniofacial features, which include relative macrocephaly, a short posterior cranial base, depressed nasal bridge, and maxillary hypoplasia. Treatment planning for such patients is often considered challenging as the presence of a large head, implanted shunt, airway obstruction, and difficulty in head control require special precautions during dental management. The present article reports the craniofacial manifestations of a 14-year-old male patient having achondroplasia, considerations taken in his dental management and the management done.

Keywords: Achondroplasia, craniofacial manifestations, dental management, malocclusion, midface hypoplasia

How to cite this article:
Chhabra N, Chhabra A, Mehta R. Craniofacial manifestations and dental considerations in association with achondroplasia: Clinical insight and report of a case. SRM J Res Dent Sci 2016;7:264-7

How to cite this URL:
Chhabra N, Chhabra A, Mehta R. Craniofacial manifestations and dental considerations in association with achondroplasia: Clinical insight and report of a case. SRM J Res Dent Sci [serial online] 2016 [cited 2022 Jul 4];7:264-7. Available from:

  Introduction Top

Achondroplasia is an autosomal dominant disorder of bone growth that manifests with stunted stature and disproportionate limb shortening. The incidence of achondroplasia varies from one in 26,000 to one in 66,000 births. [1] Achondroplasia is caused by a point mutation in fibroblast growth factor 3 (FGFR3) receptor gene on chromosome 4, causing a defect in the maturation of chondrocytes in the cartilage growth plate, which enables abnormal cartilage growth plate differentiation and insufficient bony development. [2] The major abnormality found in the growth plate of achondroplasia is quantitative rather than qualitative. [1]

Clinical manifestations of achondroplasia include disproportionate short stature with normal trunk length, short stubby trident hands, rhizomelic shortening of the extremities, bowing of the lower extremities, spinal stenosis, a lordotic lumbar spine, prominent buttocks, and a protuberant abdomen. [3] Achondroplasia is of dental interest because of its characteristic craniofacial features, which include relative macrocephaly, depressed nasal bridge, a short posterior cranial base, maxillary hypoplasia, prominent forehead, otolaryngeal system dysfunction, and foramen magnum stenosis. [3] These malformations may lead to a number of complications such as hydrocephalus, apnea, upper airway obstruction, sinusitis, otitis media, and dental malocclusion. [4] Treatment of dentofacial deformities in achondroplastic patients can be complex and challenging. Special precautions are mandatory during the dental management of achondroplastic children due to the presence of a large head, implanted shunt, airway obstruction and difficulty in head control.

Although the clinical features and natural history of achondroplasia have been documented extensively, there is a paucity of information on the dental manifestations. [1],[5] This case report illustrates the dentofacial and systemic features of achondroplasia and highlights the special considerations to be taken in the dental management of such children.

  Case Report Top

A 14-year-old boy with achondroplasia was referred to the Department of Dental Surgery, with crowded teeth and phonetic problems. Medical history revealed that the patient was a known case of achondroplasia. The patient appeared to be healthy and intelligent but had speech difficulty. He was 110 cm tall at the initial visit [Figure 1]a.
Figure 1: (a) Short stature and short limbs of the patient. (b) Lateral view of the achondroplastic patient. (c) Short stubby trident hands (increased space between the third and the fourth fingers). (d-f) Intraoral views showing anterior reversed jet, posterior cross bite, Class III dental malocclusion, crowding at the mandibular anterior region, and dental caries. (g) Panoramic view revealed no abnormalities in the size and shape of the teeth and complete crown formation of the permanent teeth including third molars. (h) Lateral skull radiograph

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Extraoral examination

Extraoral examination revealed typical manifestations of achondroplasia such as short stature, short stubby trident hands, a large calvarium with a bulging forehead, saddle nose, severe midface hypoplasia, and a concave facial soft-tissue profile [Figure 1]b and c. In the extremities, rhizomelic shortness of the long bones, a trumpet appearance of the shortened long bones, a short ulna with a thick proximal end and a slender distal end, and brachydactyly were observed.

Intraoral examination

Intraorally macroglossia, Class III molar relation, posterior crossbite, anterior reversed jet, and crowding at the mandibular anterior region due to retained primary teeth were seen [Figure 1]d-f. The size, number, and form of the teeth were normal. Oral hygiene of the patient was poor, with extensive amounts of plaque and calculus [Figure 1]d. Multiple carious lesions were observed [Figure 1]e and f.

Radiographic examination

A panoramic radiograph showed complete crown formation of the permanent teeth including third molars with normal development, crowding at the lower anterior mandibular region [Figure 1]g.

Cephalometric analysis of the lateral skull radiograph revealed a severely retrognathic maxilla, a normal mandible, a short cranial base, a decreased upper facial height, increased lower facial height, and a skeletal Class III jaw relation between the maxilla and mandible [Figure 1]h.


Treatment included extraction of all retained mandibular anterior primary teeth which were leading to lingual eruption of the permanent successors [Figure 2]a. To improve the periodontal condition of the patient, phase I therapy was started in the patient, which included full-mouth scaling and root planning with detailed oral hygiene instructions [Figure 2]b. The patient was prescribed chlorhexidine digluconate mouth rinse (0.2%), twice daily. Restoration of all carious teeth was done [Figure 2]c and d. Dental treatment was performed as planned under local anesthesia.
Figure 2: (a-d) Postoperative view after extraction of retained mandibular anterior primary teeth, oral prophylaxis and restorations of carious teeth

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Follow up

The patient was put under a recall program every 3 months to evaluate plaque control and to continue with the plaque control regimen. Due to severe maxillary hypoplasia and skeletal Class III, orthognatic surgery was decided to be performed after complete puberty followed by fixed orthodontic appliance treatment.

  Discussion Top

Achondroplasia is caused by a quantitative defect in endochondral bone formation. Till date, few studies have been reported regarding the dentofacial findings, potential dental problems, and its management in achondroplastic children. [6],[7] The present case shows the classical systemic manifestations and oral findings of an achondroplasia patient. In more than 97% of the cases, achondroplasia is caused by a single, recurrent point mutation resulting from a G to A substitution at nucleotide position 1138 G1138A in exon 10 of the FGFR3. Moreover, in more than 90% of the cases, the condition is sporadic and represents a spontaneous germline mutation. [2] However, no chromosomal anomaly was detected in our patient.

The present case had short stature (110 cm), which result from generalized defect in endochondral osteogenesis due to the deficiency of cartilage cell proliferation, particularly at the epiphyses of long bones, leading to short limbs. The subject, in this case, manifested midface hypoplasia and normal mandible which resulted in skeletal and dental Class III, posterior crossbite, and anterior reversed jet. Rohilla et al. stated that these characteristics were supposed to be the result of impaired endochondral bone formation while the membranous ossification proceeds normally. [8] Because condylar cartilage is the product of periosteal chondrogenesis, mandibular growth is not affected, as was consistent in this case.

Onodera et al. reported no delay in the eruption of the primary and permanent teeth, and it is according to the chronological age, which was a finding seen in this case. [9] The speech defect present in the patient might have been the consequence of articulating difficulty due to severe malocclusion and macroglossia.

Many skeletal malocclusions can be treated using prepubertal and pubertal growth phases. However, in achondroplastic patients, the treatment choices may be restricted since the growth potential cannot be used in the same way as other humans. [7] The foremost orthodontic problem in achondroplastic patients is Class III malocclusion due to innate shortening of the base of the skull; this abnormal configuration leads to retraction and decrease in vertical height of the maxilla. Early orthodontic evaluation should be carried out in achondroplastic patients to attempt the possibility of interceptive orthodontics, which was not valid in the presented case. The American Academy of Pediatrics recommends a review of orthodontic problems in achondroplasia after 5 years of age. [10]

Dental management of achondroplastic children requires special psychological considerations as the characteristic feature of disproportionate and short stature can lead to an erray of psychosocial and social problems. [10] Short limbs, stunted stature, and occasional spinal malalignment made it difficult for this achondroplastic boy to sit comfortably on a conventional dental chair. Thus, the dental chair was lowered, and a step stool was used to help the patient to get on the dental chair easily. A cushion was provided behind the child's back during dental treatment for good posture and to reduce back pain.

In the present case, special precautions in head control during dental intervention were crucial, due to the presence of foramen magnum stenosis, craniocervical instability, and limited neck extension as it might result in respiratory complications. Besides macroglossia and comparatively large mandible may lead to the increased difficulty of airway management in case of emergency.

It is advised to perform the dental treatment under local anesthesia in an achondroplastic child as was done in this case because general anesthesia poses certain complications due to small nasal pharynx and larynx, anteriorly placed epiglottis, difficulty in intubation, narrowing of spinal cord, small chest, and lumbar lordosis. [11] It is quintessential for dentists, including pediatric dentists, orthodontists, and oral surgeons who treat these patients, to understand the potential risk factors and complications before sedation or anesthesia. If the dental treatment is decided under general anesthesia, it is recommended to do radiologic evaluation of foramen magnum, preoxygenation before anesthesia, using appropriate endotracheal tube size, oral intubation, and administration of oxygen after extubation. [11]

  Conclusion Top

The presented case highlights that the characteristic features of achondroplasia may attribute to skeletal, respiratory, neurological, orthodontic, and psychosocial problems. Considering the complications that may emerge during the treatment of a patient with achondroplasia, it is pertinent that the dentists should be well acquainted with the marked features this syndrome as dental management is duly restricted by practical problems associated with this disease.

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


Conflicts of interest

There are no conflicts of interest.

  References Top

Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M, et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 1994;78:335-42.  Back to cited text no. 1
Muenke M, Schell U. Fibroblast-growth-factor receptor mutations in human skeletal disorders. Trends Genet 1995;11:308-13.  Back to cited text no. 2
Shirley ED, Ain MC. Achondroplasia: Manifestations and treatment. J Am Acad Orthop Surg 2009;17:231-41.  Back to cited text no. 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. 4
Kale L, Khambete N, Sodhi S, Kumar R. Achondroplasia with oligodontia: Report of a rare case. J Oral Maxillofac Pathol 2013;17:451-4.  Back to cited text no. 5
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Ohba T, Ohba Y, Tenshin S, Takano-Yamamoto T. Orthodontic treatment of class II division 1 malocclusion in a patient with achondroplasia. Angle Orthod 1998;68:377-82.  Back to cited text no. 6
Celenk P, Arici S, Celenk C. Oral findings in a typical case of achondroplasia. J Int Med Res 2003;31:236-8.  Back to cited text no. 7
Rohilla S, Kaushik A, Vinod VC, Tanwar R, Kumar M. Orofacial manifestations of achondroplasia. EXCLI J 2012;11:538-42.  Back to cited text no. 8
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
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. 10
Kalla GN, Fening E, Obiaya MO. Anaesthetic management of achondroplasia. Br J Anaesth 1986;58:117-9.  Back to cited text no. 11


  [Figure 1], [Figure 2]


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