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Case report: Rutherfurd syndrome associated with Marfan syndrome.

T A Raja¹, S Albadri, C Hood

¹Dept. Paediatric Dentistry, University Dental Hospital of Manchester, England. taiyub_raja@hotmail.com

European Archives of Paediatric Dentistry : Official Journal of the European Academy of Paediatric Dentistry

|September 17, 2008

Summary

Rutherfurd syndrome, a rare genetic disorder, presents with gingival fibromatosis and delayed tooth eruption. This case highlights dental management challenges and a novel association with Marfan syndrome.

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Area of Science:

Genetics
Oral Medicine
Ophthalmology

Background:

Rutherfurd syndrome is a rare autosomal-dominant genetic disorder.
Characterized by gingival fibromatosis, delayed tooth eruption, and corneal dystrophy.
Associated features include abnormal teeth, intellectual disability, and behavioral issues.

Observation:

A 2-year-old boy diagnosed with Rutherfurd syndrome and Marfan syndrome presented with severe dental anomalies.
Limited tooth eruption (52, 71, 81) was noted, with radiographs revealing unerupted primary and permanent teeth.
The patient refused dental interventions, including dentures, over a 6-year follow-up period.

Findings:

The case highlights gingival hyperplasia and significant tooth eruption failure as key dental manifestations of Rutherfurd syndrome.
A unique association between Rutherfurd syndrome and Marfan syndrome was observed in this patient.
Radiographic evidence confirmed widespread failure of eruption for both primary and permanent dentition.

Implications:

This case underscores the importance of comprehensive dental care and family history in managing rare genetic syndromes.
Understanding the interplay between genetic conditions and patient compliance is crucial for effective treatment planning.
The findings contribute to the limited literature on Rutherfurd syndrome, particularly its dental aspects and co-occurrence with other genetic disorders.