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Case reports: Rieger syndrome.


Background: Rieger syndrome is a rare autosomal dominant condition with at least three genetic forms. The main symptoms are umbilical cord anomalies, malformations of the anterior chamber of the eye, agenesis of certain teeth, and a hypoplastic mid-face. Case reports: In this paper three cases of Rieger syndrome are presented, focusing in particular on dental and craniofacial findings. Treatment: Treatments have been individualized and include temporary dentures and restoration of primary teeth to preserve them until their successors erupt. Follow-up: Patients with Rieger syndrome should be followed according to an individualized plan, depending on the severity of dental symptoms and general caries risk. Conclusion: It is important that the dental team have knowledge about this syndrome, as ocular complications can be prevented if the diagnosis is made early.

Key words: Rieger syndrome, hypodontia, frenulum, treatment


Rieger syndrome (RS) is a rare, autosomal dominant condition with almost complete penetrance and variable expressivity. The syndrome is characterized by periumbilical, ocular, craniofacial, and dental abnormalities [Winter and Baraitser, 1996]. Failure of involution of periumbical skin has been reported to be a cardinal symptom [Jorgensen et al., 1978]. Ocular features comprise iris stromal hypoplasia causing the eyes to appear dark, and strands of iris tissue crossing the anterior chamber angle. Schwalbes line may be anteriorly displaced. Craniofacial features are dominated by an underdeveloped premaxilla and a relative mandibular prognathism. Oral anomalies comprise hypodontia, especially of maxillary front teeth both in the primary and the permanent dentitions, small teeth, peg-shaped front teeth, and hyperplastic upper labial frenulum. Other teeth may also be missing.

To date, RS has been associated with the genes PITX2 on chromosome 4825 [Semina et al., 1996] and FOX-C1 on chromosome 13814 (Phillips et al, 1996). Also one case report describing an association between the syndrome and PAX6 on chromosome 11p13 has been published [Riise et al., 2001]. This case is identical to one of the cases (Case 1) described in this report. Three cases seen at the TAKO-centre, Lovisenberg Diakonale Hospital, Oslo, Norway are presented. The TAKO-centre is a national resource centre aiming to provide multidiciplinary expertise in diagnostics and oral treatment planning in persons with rare medical conditions. Written consents to publish all photographs have been obtained.

Case reports

Case 1. A 14-year-old girl with healthy, unrelated parents had been diagnosed and treated for characteristic ocular features since she was 6 weeks old. There was also failure of involution of the periumbilical skin. As she grew older, the ophthalmologist recognized her flat mid-face and missing maxillary central incisors. She was referred to the TAKO-centre when she was seven years of age for an examination with regard to a possible syndrome diagnosis. At that time she had the diagnosis partial aniridia. She had a retrognathic premaxilla and a mixed dentition with peg-shaped 52 and 62 as the only maxillary incisors present (Fig. 1a). A detailed medical and dental history revealed that teeth 51 and 61 had always been missing. Erupted permanent teeth were: 16, 26, 36, 32, 31, 41, 42 and 46. The lower incisors were peg-shaped and slender, and all teeth were small. The patient had an open bite with unilateral cross-bite. The palate was shallow and the maxillary labial frenulum was hyperplastic. Orthopantomogram and periapical radiographs revealed agenesis of 7 permanent maxillary teeth: 15, 13, 12, 11, 21, 23, and 25 (Fig. 1 b).


Treatment. Frenectomy was performed when she was 8 years old. After eruption of 22, composite restorations of 52 and 22 were made. Composite resin was also used on the buccal surfaces of 53 and 63 for retention of a partial denture, which replaced the central incisors. The patient was satisfied with the aesthetic result (Fig. 2a).


Follow-up. After completed treatment she has been seen annually in our clinic. A new partial denture was made after one and a half years due to loss of the first one. All permanent teeth are now erupted, but maxillary growth has been slow (Fig 2b), and the denture is still in use. Future planned treatment includes orthodontic therapy starting when 52 is lost, and 22 will be moved distally to give more room for replacement of 12, 11 and 21. Remaining primary teeth will be kept as long as possible. Dental implants are the most likely treatment for the patient at the age of 18-20 years of age and it may be necessary to perform orthognatic surgery because of the relative mandibular prognathism.

Case 2. A local dental hygienist participating in a post-graduate program first suspected a syndrome diagnosis in a 12 year-old boy and consulted staff at the TAKO-centre. He had previously been diagnosed with oligodontia (8 teeth missing), malocclusion, hypoplastic premaxilla (Fig. 3a), and hyperplastic upper labial frenulum by the local dentist.


Earlier records from dental visits were obtained and sent to us. These included clinical photographs and an orthopantomogram. The radiographs revealed agenesis of 17, 12, 11, 21, 22, 25, 35, and 45 (Fig. 3b). His facial appearance and his dark coloured eyes suggested Rieger syndrome. He was also using glasses. Further information was obtained by the local dental hygienist and included reports of a rapid decline in sight. Despite this he had not been seen by an ophthalmologist for several years. He had been operated on for hernia umbilicalis when he was 3 months old.

Based on information revealed in taking the medical history and clinical findings, he was further referred to an ophthalmologist who reported hypoplasia of the iris stroma and an asymmetric pupil, thereby confirming the tentative diagnosis of Rieger syndrome. His intraocular pressure is now being measured annually, as glaucoma is a common complication in this condition.

The patient was also referred to a geneticist for consultation and genetic analysis. Results have still not been received.

Treatment. The patient has only been seen once at our clinic, at age 13 years, after the diagnosis had originally been made. At this time teeth 13 and 23 were erupting, 23 was erupting mesially for 63 and 53 had exfoliated. He had tried to use a partial denture, but it did not fit well. The maxillary labial frenulum was hyperplastic (Fig 3c). All teeth were small. He had a bilateral cross-bite and mesial occlusion with negative overbite of 4mm. OPG revealed taurodontia of all permanent molars. The roots on 75 and 85 were short.

Follow-up. The following recommendations were given based on the clinical findings. At this stage of tooth development it is challenging to make a successful denture. However, this was recommended after a frenectomy. which was necessary as he could not pout his lips, and the frenulum was an obstacle for a pre-temporary denture. Later it may be necessary to perform orthognatic surgery. Two or four dental implants will be placed in the maxilla, depending on the position of the canines; 65 should be preserved as long as possible; 75 and 85 may be extracted or replaced by implants depending on the future orthodontic treatment.

Case 3. An 8-year-old boy was referred to the TAKO-centre six years ago from a clinical geneticist. His mother suspected a diagnosis of Rieger syndrome in both herself and her son. The mother had all her life had problems due to multiple dental agenesis, mainly in the maxilla. In addition she had had hernia umbilicalis and eye-problems, with dark-coloured eyes that were different from other family-members. Her son had been operated for hernia umbilicalis. He demonstrated frontal bossing, retrognathic premaxilla with relative mandibular prognathism, thin upper lip and a protruding lower lip. His eyes were dark-coloured. He had 16 primary teeth; the teeth missing were 53, 52, 62 and 63. 51 and 61 had normal size, but all other teeth were small. The maxillary labial frenulum was hyperplastic and the median diastema was large (Fig 4a). Radiological examination revealed that 53 and 63 were present, but their development was delayed. Agenesis of 52 and 62 was confirmed. Only one permanent incisor could bee identified.


Clinical findings were consistent with the orofacial and dental symptoms of Rieger syndrome and the boy was referred to an ophthalmologist. The first examination did not reveal any pathological eye findings, possibly because there were cooperation problems. However, at a follow up 2 years later atrophy of the iris stroma and anteriorly displaced Schwalbes line were diagnosed, and he was finally diagnosed with Rieger syndrome. Since then he has been seen regularly in our clinic.

Treatment. At present 51 and 61 are still not exfoliated, but they are slightly mobile. Tooth development proceeds very slowly. No treatment has been performed so far. An orthopantomogram revealed agenesis of teeth: 17, 16, 12, 21, 22, 26, 27, 47 (Fig. 4b). He has a mandibular prognathism with no transverse deviation (Fig. 4c).

Follow-up. Unless the patient wants a semi-permanent denture, no treatment will be initiated until exfoliation of 51 and eruption of 11, later shedding of 61 and eruption of 22. Frenectomy will be done and a semi-permanent prosthetic treatment in the maxillary anterior teeth, eventually combined with orthodontic therapy. Later, orthognathic surgery will probably be performed. The parents were informed that for the moment we can not ascertain that all tooth germs will develop to a normal size.


Dento-facial features may be the first recognizable symptoms of Rieger syndrome. As ocular complications can be prevented with early interventions, it is important that dentists have knowledge about this condition. Furthermore, early diagnosis and an interdisciplinary approach is necessary in order to provide the best short and long-term treatment plans as well as treatment and follow-up for individuals with the syndrome.


Consent to report these cases and to use facial photographs was obtained from the parents of the three children involved.


Jorgenson RJ, Levin LS, Cross HE, Yoder F, Kelly TE. The Rieger syndrome. Am J Med Genet 1978;2:307-318.

Phillips JC, del Bono EA, Haines JL, et al. A second locus for Rieger syndrome maps to chromosome 13814. Am J Hum Genet 1996;59:613-619.

Riise R, Storhaug K, Brondum-Nielsen K. Rieger syndrome is associated with PAX6 deletion. Acta Ophthalmol Scand 2001;79:201-203.

Semina EV, Reiter R, Leysens NJ, et al. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, Rieg, involved in Rieger syndrome. Nat Genet 1996;14:392-399.

Winter R, Baraitser M. London Dysmorphology Database. Oxford Uk. Oxford Medical Press, 1996.

Skogedal N, Nordgarden H.

TAKO-centre, Lovisenberg Diakonale Hospital, Oslo, Norway.

Postal address: Dr Skogedal. TAKO-centre, Lovisenberg Diakonale Hospital, 0440 Oslo, Norway.

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Article Details
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Author:Skogedal, N.; Nordgarden, H.
Publication:European Archives of Paediatric Dentistry
Article Type:Disease/Disorder overview
Date:Jan 1, 2007
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