Otodental Syndrome Research Articles

Otodental Syndrome.

Otodental syndrome is a rare autosomal dominant condition characterised by a dental phenotype known as globodontia often associated with high-frequency hearing loss. Globodontia occurs both in the decidous and permanent dentition and affects canine and molar teeth.

Three years of follow-up of otodental syndrome in 3-year-old Chinese boy: a rare case report

BackgroundOtodental syndrome is an exceptionally rare autosomal dominant condition characterized by a delayed eruption of posterior teeth, globodontia, lisping, and sensorineural hearing loss. In this case report, we reported a 3-year-old Chinese boy with the otodental syndrome.Case presentationA 3-year-old Chinese boy was referred to our hospital with complaint of no eruption of primary canines and molars. Three years follow-up showed lately erupted bulbous primary canines with hypoplastic enamel spot, globe-shaped primary molars and sensorineural hearing loss at 4 and a half-year-old age. We diagnosed otodental syndrome in the patient’s mother with hearing loss at 16-year-old age. Gene sequencing and analysis of deafness-related genes GJB2, GJB3, SLC26A4, and mtDNA did not reveal any mutation or SNPs in the patient and his mother.ConclusionsThis case report highlights the importance of detailed medical, dental, and family history examination, as well as multi-disciplinary teamwork for diagnosis and treatment of otodental syndrome.

Chromosome 11q13 deletion syndrome.

Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care.

True Pulp Stones in Compound Odontome: An Unusual Finding

ABSTRACT Calcifications within dental pulp are not a rare phenomenon. Rarely, they can be seen in association with dentin dysplasia type II, pulpal dysplasia, tumoral calcinosis, Ehlers-Danlos syndrome type I, Saethre-Chotzen syndrome, Elfin-Facies syndrome, familial expansile osteolysis, osteogenesis imperfecta type I and otodental syndrome. We came across a case of compound odontome in the maxillary posterior region with multiple true pulp stone formation at the microscopic level. Such an unusual association has not been reported in the English medical literature till date. How to cite this article Sarode GS, Sarode SC, Anand R, Waknis P. True Pulp Stones in Compound Odontome: An Unusual Finding. World J Dent 2015;6(4):241-242.

Intervenção fisioterapêutica na síndrome otodental – estudo de caso

Introdução: A Síndrome Otodental (SO) é caracterizada por anomalias dentais, perdas auditivas e coloboma ocular. Alterações oclusais são frequentes e estão associadas com desenvolvimento alterado da face. Objetivo: Avaliar o efeito da Facilitação Neuromuscular Proprioceptiva (FNP) para os músculos da mímica facial e Reeducação Postural Global (RPG) na postura da cabeça e cervical em portadora de SO. Métodos: Participou uma voluntária, 10 anos, com SO, apresentando perda auditiva e rinite alérgica, atraso na erupção dentária, dificuldade de respiração e hábitos parafuncionais. Foi aplicado um programa de exercícios de FNP para a face, seguido de RPG por sete semanas. Resultados: Observou-se melhora da expressão e tônus facial após o tratamento. Conclusão: A RPG associada à FNP na face promoveu melhora da força dos músculos de mímica e de expressão facial e melhora da postura da cabeça e cervical em portadora de SO, sugerindo sua utilização como conduta fisioterapêutica nestes casos.

LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations

We report on the first cases of FGF3 compound heterozygotes in two European families from non-consanguineous marriages, affected with labyrinthine aplasia, microtia, and microdontia (LAMM) Syndrome. Three not previously described mutations (p.W153VfsX51, p.Y106C, and p.Y49C) and a recurrent one (p.R104X) were found. Analysis of 50 unrelated control subjects (100 chromosomes) of the same European background did not show any of the two newly reported missense variations. We confirm the absence of otodental syndrome in heterozygous carriers, but report unilateral microtia in one of them. We also report on the involvement of the middle ear structures in LAMM Syndrome.

Nörosensoryal İşitme Kaybı ve Anodonti Bulguları Olan Bir Olgu: Otodental Sendromun Bir Varyantı mı?

Nörosensoryal İşitme Kaybı ve Anodonti Bulguları Olan Bir Olgu: Otodental Sendromun Bir Varyantı mı?

SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma

We ascertained three different families affected with oto-dental syndrome, a rare but severe autosomal-dominant craniofacial anomaly. All affected patients had the unique phenotype of grossly enlarged molar teeth (globodontia) segregating with a high-frequency sensorineural hearing loss. In addition, ocular coloboma segregated with disease in one family (oculo-oto-dental syndrome). A genome-wide scan was performed using the Affymetrix GeneChip10K 2.0 Array. Parametric linkage analysis gave a single LOD score peak of 3.9 identifying linkage to chromosome 11q13. Haplotype analysis revealed three obligatory recombination events defining a 4.8 Mb linked interval between D11S1889 and SNP rs2077955. Higher resolution mapping and Southern blot analysis in each family identified overlapping hemizygous microdeletions. SNP expression analysis and real-time quantitative RT-PCR in patient lymphoblast cell lines excluded a positional effect on the flanking genes ORAOV1, PPFIA1 and CTTN. The smallest 43 kb deletion resulted in the loss of only one gene, FGF3, which was also deleted in all other otodental families. These data suggest that FGF3 haploinsufficiency is likely to be the cause of otodental syndrome. In addition, the Fas-associated death domain (FADD) gene was also deleted in the one family segregating ocular coloboma. Spatiotemporal in situ hybridization in zebrafish embryos established for the first time that fadd is expressed during eye development. We therefore propose that FADD haploinsufficiency is likely to be responsible for ocular coloboma in this family. This study therefore implicates FGF3 and FADD in human craniofacial disease.

Otodental syndrome

The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves). The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary.

Avaliação fisioterapêutica dos sistemas mastigatório e respiratório de um portador de Síndrome Otodental: um estudo de caso

Background: Otodental syndrome is a rare autosomal syndrome of dominant characteristic in which dental anomalies and gradual loss of hearing are the main manifestations. Objective: To detect abnormalities in the masticatory and respiratory systems and posture of a patient with otodental syndrome, based on physiotherapeutic evaluation. Method: Posture was evaluated; facial inspection was performed; masticatory and respiratory muscles were palpated; temporomandibular joint range of movement was measured; and thoracoabdominal cirtometry was performed. Data were also obtained by anamnesis. Results and Discussion: Oral respiration was found to be associated with increased mobility in axillary region. No signs or symptoms of temporomandibular disorders were found. Facial and postural findings were common among patients presenting oral respiration, thus suggesting the development of respiratory alterations secondary to otodental Syndrome. However, the rarity of this pathological condition, together with descriptions in literature that are restricted to the field of dentistry, makes it difficult to comparatively analyze the data from the present study.

Otodental syndrome, oculo-facio-cardio-dental (OFCD) syndrome, and lobodontia: dental disorders of interest to the pediatric radiologist.

Three unusual dental anomalies are presented which should be of interest to the pediatric radiologist: otodental syndrome - an autosomal dominant syndrome of bizarre, greatly enlarged teeth with bulbous crowns (globodontia) that spares the incisors, in combination with sensorineural hearing loss; oculo-facio-cardio-dental syndrome - an X-linked dominant syndrome that is lethal in males, characterized by congenital cataracts, unusual facies, atrial septal defect (ASD), ventricular septal defect (VSD), and canine teeth that cease to grow only when they cut off their own blood supply by growing through the orbit and lower border of mandible; and lobodontia - a dominant disorder characterized by teeth whose crowns resemble those of a wolf.

Otodental syndrome: A case report

A 12-year-old boy with characteristic findings of otodental syndrome is presented. Abnormalities of deciduous and permanent dentition included bulbous canines, globe-shaped posterior teeth and agenesis of maxillary premolars. High-frequency sensorineural hearing loss was demonstrated, and results of genetic studies indicated an autosomal dominant trait. This patient presented previously unreported findings, including generalized macrodontia, delayed mineralization of the mandibular premolars, and supplementary permanent maxillary canines.

Globodontia in the otodental syndrome

A gross morphologic anomaly of tooth form affecting both primary and secondary posterior teeth has been observed segregating as an autosomal dominant trait in a kindred of Polish extraction. The crowns of the canine, premolar, and molar teeth resemble massive globes; the pulp chambers are large and may be duplicated; and the occlusal surfaces lack definite cusps, often resembling the tied end of a sausage. The relationship of the tooth anomaly to high-frequency hearing loss previously associated with this tooth defect appeared to be variable in this kindred.