Oral manifestations and rehabilitation in Fraser syndrome: A case report

Abstract

Fraser syndrome (FS) is a rare recessive autosomal genetic disorder characterized by multisystemic malformations typically comprising cryptophthalmos, syndactyly, and renal defects. We report the case of a 16-year-old patient who exhibited facial asymmetry, short roots, hypodontia, and malocclusion. Oral rehabilitation included orthodontics, exodontia, and osseointegrated dental implants to improve the patient's self-esteem and eating function. We suggest short roots and hypodontia assessment in patients with FS.

Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene

“…Similar anomalies have been described in the literature, anecdotally (Gallottini et al, 2018;Hassona, Kharoub, & Scully, 2017;Kantaputra et al, 2001;Keene & Day, 2011). It is notable that the same homozygous FRAS1 variant c.6963_6964dup was identified independently in two nonconsanguineous families reported here.…”

“…Detailed examination of dental anomalies in the patient presented here showed abnormal eruption of teeth, narrowing of the dental arches, and anomalies such as very short roots of permanent teeth. Similar anomalies have been described in the literature, anecdotally (Gallottini et al, ; Hassona, Kharoub, & Scully, ; Kantaputra et al, ; Keene & Day, ). It is notable that the same homozygous FRAS1 variant c.6963_6964dup was identified independently in two nonconsanguineous families reported here.…”

“…The long-term follow-up of one of our patients revealed some anomalies that emerged during the course of the disorder, namely hearing loss due to bilateral atresia of the external ear canals, orodental problems, and craniofacial stenosis. Only a few reports on long-term survivors with FS are available (Gallottini et al, 2018;van Haelst et al, 2007). However, the oldest known patient with FS reached the age of 96 years (Impallomeni, Subramanian, Mahmood, & Illes, 2006).…”

Characteristic dental pattern with hypodontia and short roots in Fraser syndrome

“…There have been previous anecdotal reports on oral and dental anomalies in FS, which stimulated this study (de Oliveira & de Sant'Anna, 2014;Diniz et al, 2007;Gallottini et al, 2018;Hassona et al, 2017;Kantaputra et al, 2001;Keene & Day, 2011). We aimed to identify the frequency of dental anomalies in FS and verify their specific patterns.…”

“…Keene et al reported a second case in the dental literature and noted hypodontia and short dental roots in a 15-year-old female with FS (Keene & Day, 2011). A few more anecdotal reports have replicated the observation of hypodontia and short dental roots (Gallottini et al, 2018;Hassona, Kharoub, & Scully, 2017;Kantaputra et al, 2001). In the most recent publication on this topic including another case report and a literature review, Gallotini et al summarized oral findings in FS to include oral clefting, high arched palate, malocclusion, ankyloglossia, fusion of primary teeth, hypodontia, microdontia, short roots, retained teeth, and dental crowding.…”