IADR Abstract Archives
Oral Phenotype of Singleton-Merten: a Case Report
Objectives: Singleton-Merten syndrome is a rare autosomal dominant disorder with blood vessels calcifications, teeth anomalies and bone defects.
We aim to describe the oral features of a Singleton-Merten patient, the diagnosis and the treatment he received.
Methods: A 10-years-old patient presented at the pediatric dentistry department for an emergency. After a clinical and radiological examination, he was referred to the Reference Center of Rare Oral and Dental Diseases. In order to investigate the diagnosis, he received a genetic consultation.
Results: We followed him for numerous carious lesions, severe teeth malposition especially in the anterior arch, and oral hygiene deficiency with a 100% plaque index, associated with dental and jawbones anomalies The X-ray did not show any dental agenesis but revealed short roots and a decrease of the alveolar bone height. We observed dysmorphic facial features, fine and space hair, a trigonocephaly with triangular face, discrete hypertelorism, long arched eyebrow and low set-ears. He also presented muscle weakness, cutaneous xerosis and ophthalmologic glaucoma, without intellectual disability. Whole genome sequencing analysis revealed a heterozygous de novo variant in IFIH1 (NM_022168.4) c.2465G>A (p.Arg822Gln) and confirmed a Singleton-Merten syndrome. We carried out the necessary health education and care, a partial denture replaced the hopeless teeth and maintained the vertical dimension.
Conclusions: Few descriptions of oral features occurred in literature between congenital findings and “acquired” pathologies, such as missing teeth. The oral phenotype of these patients remains insufficiently described, while it may contribute to diagnosis. Early diagnosis may prevent delayed teeth loss and improve quality of life.
We aim to describe the oral features of a Singleton-Merten patient, the diagnosis and the treatment he received.
Methods: A 10-years-old patient presented at the pediatric dentistry department for an emergency. After a clinical and radiological examination, he was referred to the Reference Center of Rare Oral and Dental Diseases. In order to investigate the diagnosis, he received a genetic consultation.
Results: We followed him for numerous carious lesions, severe teeth malposition especially in the anterior arch, and oral hygiene deficiency with a 100% plaque index, associated with dental and jawbones anomalies The X-ray did not show any dental agenesis but revealed short roots and a decrease of the alveolar bone height. We observed dysmorphic facial features, fine and space hair, a trigonocephaly with triangular face, discrete hypertelorism, long arched eyebrow and low set-ears. He also presented muscle weakness, cutaneous xerosis and ophthalmologic glaucoma, without intellectual disability. Whole genome sequencing analysis revealed a heterozygous de novo variant in IFIH1 (NM_022168.4) c.2465G>A (p.Arg822Gln) and confirmed a Singleton-Merten syndrome. We carried out the necessary health education and care, a partial denture replaced the hopeless teeth and maintained the vertical dimension.
Conclusions: Few descriptions of oral features occurred in literature between congenital findings and “acquired” pathologies, such as missing teeth. The oral phenotype of these patients remains insufficiently described, while it may contribute to diagnosis. Early diagnosis may prevent delayed teeth loss and improve quality of life.
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