Oral healthcare in Fraser syndrome

Hassona, Yazan; Kharoub, H.; Scully, Crispian

doi:10.1111/scd.12247

Cited by 7 publications

(15 citation statements)

References 13 publications

(19 reference statements)

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“…Keene and Day were the first to report short roots in a 15‐year‐old female patient. More recently, Hassona et al . also reported this finding.…”

Section: Discussionsupporting

confidence: 89%

“…Although SRA is not a mandatory criterion for FS diagnosis, we believe that this report contributes to the two previous articles suggesting that SRA is an FS‐related event. The dental rehabilitation performed in this patient with FS improved the masticatory function and provided aesthetic harmony to the patient's face.…”

Section: Discussionmentioning

confidence: 55%

“…In light of the repetition of short roots and hypodontia described in two and five published cases, respectively, we suggest that these manifestations should always be screened for in FS‐affected individuals. In addition, what is known about FS and its manifestations, the early detection of short roots and hypodontia enables better planning for successful dental rehabilitation during the permanent dentition phase.…”

Section: Discussionmentioning

confidence: 89%

“…Oral features associated with FS have been poorly reported in the literature. Electronic search was conducted in PubMed using the keywords “Fraser syndrome,” “Oral Manifestations,” and “tooth abnormalities.” We found five publications describing oral and dental findings in patients with FS . The most common themes in these publications included facial asymmetry, arched palate, hypodontia, microdontia, malocclusion, short roots, and retained deciduous teeth.…”

Section: Introductionmentioning

confidence: 99%

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Oral manifestations and rehabilitation in Fraser syndrome: A case report

Gallottini

Llanos

Romito

et al. 2018

Special Care in Dentistry

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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.

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“…Keene and Day were the first to report short roots in a 15‐year‐old female patient. More recently, Hassona et al . also reported this finding.…”

Section: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 55%

Section: Discussionmentioning

confidence: 89%

Section: Introductionmentioning

confidence: 99%

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Oral manifestations and rehabilitation in Fraser syndrome: A case report

Gallottini

Llanos

Romito

et al. 2018

Special Care in Dentistry

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“…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.…”

Section: Discussionsupporting

confidence: 81%

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

Midro

Stasiewicz‐Jarocka

Borys

et al. 2020

American J of Med Genetics Pt A

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We report on two unrelated families of Polish origin with variable expression of Fraser syndrome (FS; MIM#219000) due to homozygosity for the same pathogenic variant, c.6963_6964dup, of FRAS1. In one family, the disorder presented with perinatal and prenatal lethality. One affected female from family 2 who was followed‐up for 32 years, represented a relatively favorable long‐term outcome. She displayed the typical craniofacial dysmorphism, including right cryptophthalmos, cutaneous syndactyly, abnormalities of the stomathognatic system, bilateral atresia of the external ear canals resulting in conductive hearing loss, and malformations of the larynx, spleen, kidney, and genitourinary tract. Her intellectual capacities were normal. Our observations illustrate that expression and severity of FS, even when caused by the same pathogenic variant, may be quite different ranging from a lethal disorder to a condition with multiple physical malformations but normal psychomotor development. In addition, we propose that the FRAS1 c.6963_6964dup variant may be a founder mutation in the Polish population. Therefore, it would be reasonable to test specifically for this variant first in any FS1 patient of Polish ancestry.

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Characteristic dental pattern with hypodontia and short roots in Fraser syndrome

Kunz

Kayserili

Midro

et al. 2020

American J of Med Genetics Pt A

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Fraser syndrome (FS) is a rare autosomal recessive multiple congenital malformation syndrome characterized by cryptophthalmos, cutaneous syndactyly, renal agenesis, ambiguous genitalia, and laryngotracheal anomalies. It is caused by biallelic mutations of FRAS1, FREM2, and GRIP1 genes, encoding components of a protein complex that mediates embryonic epithelial-mesenchymal interactions. Anecdotal reports have described abnormal orodental findings in FS, but no study has as yet addressed the orodental findings of FS systematically. We reviewed dental radiographs of 10 unrelated patients with FS of different genetic etiologies. Dental anomalies were present in all patients with FS and included hypodontia, dental crowding, medial diastema, and retained teeth. A very consistent pattern of shortened dental roots of most permanent teeth as well as altered length/width ratio with shortened dental crowns of upper incisors was also identified. These findings suggest that the FRAS1-FREM complex mediates critical mesenchymal-epithelial interactions during dental crown and root development. The orodental findings of FS reported herein represent a previously underestimated manifestation of the disorder with significant impact on orodental health for affected individuals.

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Oral healthcare in Fraser syndrome

Cited by 7 publications

References 13 publications

Oral manifestations and rehabilitation in Fraser syndrome: A case report

Oral manifestations and rehabilitation in Fraser syndrome: A case report

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

Characteristic dental pattern with hypodontia and short roots in Fraser syndrome

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