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Year : 2019  |  Volume : 6  |  Issue : 1  |  Page : 41-44

Dental and craniofacial anomalies associated with Axenfeld–Rieger syndrome

Department of Pedodontics and Preventive Dentistry, University College of Medical Sciences (University of Delhi) and Guru Teg Bahadur Hospital, New Delhi, India

Date of Web Publication12-Mar-2019

Correspondence Address:
Amit Khatri
Department of Pedodontics and Preventive Dentistry, University College of Medical Sciences and Guru Teg Bahadur Hospital, New Delhi - 110 095
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/sjos.SJOralSci_11_18

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Axenfeld–Rieger syndrome (ARS) is a rare, autosomal dominant disorder with genetic and morphologic variability and characterized by ocular and nonocular clinical findings. Midface hypoplasia and maxillary hypodontia are classical presenting features of this syndrome. This case report describes a dental condition, immediate treatment required and a long-term treatment approach toward a patient 5-year-of-age with ARS, who presented with significant ocular and dental anomalies.

Keywords: Axenfeld, Rieger, Syndrome

How to cite this article:
Khatri A, Beniwal P, Kalra N, Tyagi R. Dental and craniofacial anomalies associated with Axenfeld–Rieger syndrome. Saudi J Oral Sci 2019;6:41-4

How to cite this URL:
Khatri A, Beniwal P, Kalra N, Tyagi R. Dental and craniofacial anomalies associated with Axenfeld–Rieger syndrome. Saudi J Oral Sci [serial online] 2019 [cited 2022 May 28];6:41-4. Available from: https://www.saudijos.org/text.asp?2019/6/1/41/254025

  Introduction Top

Axenfeld–Rieger syndrome (ARS) is an autosomal dominant disorder with genetic and morphologic variability and characterized by ocular and nonocular clinical findings.[1] In 1920, Karl Axenfeld described the syndrome with a typical appearance of a white line in the posterior aspect of a cornea.[2] Rieger in 1935, in addition to Axenfeld's findings, described certain changes in the iris, stromal atrophy, papillary abnormalities, and other nonocular developmental defects.[3] Shields et al. discussed the difficulty in differentiating the Axenfeld and Rieger anomalies clinically and therefore proposed the collective terms ARS.[4]

The incidence of ARS in general population is 1:200,000.[5] There is no sex predilection. Most cases are diagnosed during infancy or childhood; however, glaucoma typically presents in late childhood or adulthood. Nonocular findings include craniofacial, dental, and umbilical anomalies. Characteristic craniofacial malformations include hypertelorism, telecanthus, midface hypoplasia, mandibular prognathism, hypodontia, and microdontia.[6],[7],[8],[9]

Etiology of ARS is attributed to deranged or arrested development of neural crest ectoderm in the third trimester, which is characterized by abnormalities of an anterior chamber of an eye, cardiovascular system, and dental and craniofacial anomalies. The ARS chromosomal abnormality has been linked to loci at chromosomes 4q25, 6p25, 13q14, 16q24, and 11. Genetic features of two genes, FOX-C1 and P1TX2, on chromosomes 4q25 and 6p25 have been identified. Mutation in the P1TX2 coding sequence leads to the various phenotypes of ARS.[10],[11]

The purpose of this article is to report dentofacial and systemic features of a case of ARS and to highlight the importance of early diagnosis of the syndrome from these features to prevent subsequent occlusal complication.

  Case Report Top

A 5-year-old female child was presented to the Department of Pedodontics and Preventive Dentistry, UCMS and GTB Hospital, Delhi. The presenting complaint was her mother's anxiety over the failure of eruption of maxillary incisors. The medical history of the patient revealed that she was born to consanguineous parents by an uncomplicated delivery at 31 weeks. It was found that the patient's aunt had retinoblastoma during her childhood. All other members of the family were apparently normal without any significant medical history.

Birth weight of the child was 2.5 kg. The child's first visit to an ophthalmologist was at the age of 6 months, with the chief complaint of squint. Polycoria and anterior segment dysgenesis were diagnosed in that visit, and after comprehensive ophthalmic and clinical examination of the child, a confirmatory diagnosis of ARS was made.

Clinical examination revealed apparently symmetrical face with a concave facial profile. She had a broad nasal root, lips were competent, but the lower lip was everted [Figure 1]a and [Figure 1]b. Other clinical findings were short stature along with limping in gait due to malformed legs. An initial dental examination revealed multiple missing teeth, namely 51, 52, 61, and 62 with no history of extraction and trauma. Her mother confirmed that no teeth had even erupted in the premaxillary region since birth. The maxillary primary molars were found to have mild enamel hypoplasia and alveolar hyperplasia.
Figure 1: (a) Extraoral photographs showing apparently symmetrical face and broad nasal root that is associated with Axenfeld–Rieger syndrome. (b) Picture of the patient in profile shows her maxillary retrusion giving rise to the skeletal III dental base relationship

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A panoramic radiograph revealed congenital missing 11, 12, 21, and 22 and tooth buds of 31 and 41 were also missing [Figure 2]. A lateral cephalogram revealed an overall decrease in craniofacial dimensions [Figure 3]. It was observed that the patient presented with bimaxillary protrusion characterized by low SNA and SNB angular measurement [Table 1]. Both upper (N-ANS) and lower (ANS-Gn) facial heights were decreased, with mild maxillary hypoplasia causing the mandible to appear prominent and giving the patient a slight prognathic appearance. Midface hypoplasia is likely to become more marked as growth continues.
Figure 2: A panoramic radiograph at 5 years of age showing congenital missing 11, 12, 21, 22 and tooth bud of 31 and 41

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Figure 3: A lateral cephalogram at 5 years of age revealed an overall decrease in craniofacial dimensions

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Table 1: Angular and linear cephalometric measurement for the patient

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The aim of dental management was to improve both esthetics and function. To preserve her existing dentition, oral hygiene instructions, oral prophylaxis, and pit and fissure sealant of primary molars were done. To manage her immediate esthetic needs, an anterior fixed esthetic space maintainer (primary incisor teeth secured from a rigid stainless steel wire 0.036 or 0.040 inches extended to the band on a primary molar) was given [Figure 4], which was later replaced by a removable partial denture.
Figure 4: Anterior fixed esthetic removable partial denture

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The prosthesis has been worn successfully for 2 years, and she is being reviewed in the outpatient settings of the department every 3 months.

At 9 years of age [Figure 5], panoramic radiograph revealed the presence of 16, 55, 54, 53, 63, 64, 65, 26, 71, 32, 73, 74, 75, 36, 81, 83, 85, 42, 46, and permanent tooth bud missing 18, 17, 25, 27, 28, 38, 35, 31, 41, 45, and 48.
Figure 5: Panoramic radiograph at 9 years of age revealed the presence of 16, 55, 54, 53, 63, 64, 65, 26, 71, 32, 73, 74, 75, 36, 81, 83, 85, 42, 46, and permanent tooth bud missing 18, 17, 25, 27, 28, 38, 35, 31, 41, 45, and 48

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  Discussion Top

The oral manifestations of ARS vary: these patients exhibit microdontia, hypodontia, taurodontia, and enamel hypoplasia. Central incisors, lateral incisors, and premolars are frequently microdont or missing.[12],[13] The case described here had similar common clinical findings. Waldron et al. also reported similar common clinical findings.[14]

In the present case report, the patient had missing anterior teeth in both the jaws. Drum et al. found that an alveolar hypoplasia resulting from missing teeth contributes to a maxillary deficiency.[15] However, anterior facial height was decreased and could be due to the partial eruption of molars.

The long-term focus is extensive oral rehabilitation when the growth of the craniofacial skeleton is complete, involving multidisciplinary approach with an orthodontist, prosthodontist, and oral and maxillofacial surgeons.

Orthodontic treatment (fixed or removable appliance) limited due to the malformed shape of the crowns and short roots. Root resorption and loss of teeth are risks during orthodontic movement.

In addition, abnormal jaw growth prevents the use of orthopedic appliances to modify or to reduce the severity of the developing skeletal abnormalities during the primary dentition or in the mixed dentition. In the long run, dental implants remain the most likely treatment option for this patient. However, the short and narrow alveolar ridge, which is typical of an ARS patient, would most likely require a preliminary ridge augmentation with an autografted bone.

  Conclusion Top

ARS is a rare disorder with morphologic and genetic variability. The concomitant occurrence of rare dental and craniofacial features in these patients, such as hypoplasia of central incisors, rare type of tooth agenesis associated with maxillary retrognathia, and a skeletal class III malocclusion, may be an indication toward the likelihood of ARS if they are associated with hallmark ophthalmic findings.

Early detection of ARS and periodically reviewing potentially elevated intraocular pressure helps physicians to prevent visual field loss and improve the overall prognosis.

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

Alward LM, Murray JC. Axenfeld-rieger syndrome. In: Wiggs J, editor. Molecular Genetics of Ocular Disease. New York, NY: Wiley-Liss; 1995. p. 31-50.  Back to cited text no. 1
Axenfeld TH. Embryotoxon corneae posterius. German Ophthalmol Ges 1920;42:301-2.  Back to cited text no. 2
Rieger H. Demonstration of two: Fails of displacement and slit shape of the pupil with hvpoplasia of the iris anterior leaflet on both eyes of a 10-year and 25-year-old Patient. Z Augenheilk 1934;84:98-9.  Back to cited text no. 3
Shields MB, Buckley E, Klintworth GK, Thresher R. Axenfeld-Rieger syndrome. A spectrum of developmental disorders. Surv Ophthalmol 1985;29:387-409.  Back to cited text no. 4
Gorlin RJ, Cohen MM, Levin LS. Syndromes of the Head and Neck. Vol. 5. New York, Oxford: Oxford Press; 1990. p. 693-700.  Back to cited text no. 5
Gokce G, Oren NC, Ozgonul C. Axenfeld-Rieger syndrome associated with severe maxillofacial and skeletal anomalies. J Oral Maxillofac Pathol 2015;19:109.  Back to cited text no. 6
[PUBMED]  [Full text]  
Jena AK, Kharbanda OP. Axenfeld-Rieger syndrome: Report on dental and craniofacial findings. J Clin Pediatr Dent 2005;30:83-8.  Back to cited text no. 7
O'Dwyer EM, Jones DC. Dental anomalies in Axenfeld-Rieger syndrome. Int J Paediatr Dent 2005;15:459-63.  Back to cited text no. 8
Singh J, Pannu K, Lehl G. The Rieger syndrome: Orofacial manifestations. Case report of a rare condition. Quintessence Int 2003;34:689-92.  Back to cited text no. 9
Vaux C, Sheffield L, Keith CG, Voullaire L. Evidence that Rieger syndrome maps to 4q25 or 4q27. J Med Genet 1992;29:256-8.  Back to cited text no. 10
Priston M, Kozlowski K, Gill D, Letwin K, Buys Y, Levin AV, et al. Functional analyses of two newly identified PITX2 mutants reveal a novel molecular mechanism for Axenfeld-Rieger syndrome. Hum Mol Genet 2001;10:1631-8.  Back to cited text no. 11
Gorlin R, Pindborg J, Cohen M, editors. Rieger's syndrome. In: Syndromes of the Head and Neck. 2nd ed. New York, NY: McGraw-Hill; 1976. p. 649-51.  Back to cited text no. 12
Prabhu NT, John R, Munshi AK. Rieger's syndrome: A case report. Quintessence Int 1997;28:749-52.  Back to cited text no. 13
Waldron JM, McNamara C, Hewson AR, McNamara CM. Axenfeld-Rieger syndrome (ARS): A review and case report. Spec Care Dentist 2010;30:218-22.  Back to cited text no. 14
Drum MA, Kaiser-Kupfer MI, Guckes AD, Roberts MW. Oral manifestations of the Rieger syndrome: Report of case. J Am Dent Assoc 1985;110:343-6.  Back to cited text no. 15


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

  [Table 1]


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