Oral manifestations of ellis-van creveld syndrome. A rare case report

Peña‐Cardelles, Juan‐Francisco; Domínguez-Medina, David A.; Cano-Durán, Jorge A.; Ortega-Concepción, Daniel; Cebrián, J.L.

doi:10.4317/jced.55543

Cited by 8 publications

(6 citation statements)

References 10 publications

(7 reference statements)

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“…Odontogenic tissue is present from the 28th day of embryonic development. The dental laminae undergo induction and proliferate in a constant genetically determined sequence into the underlying ectomesenchymal tissue at locations which 36 Ghosh et al 37 Pena-Cardelles et al 38 Shaik et al 39 Hurler correspond to the dental papillae. Fibroblast growth factors (FGF) stimulate mitotic activity of the odontogenic cells and promote the expression of a transcription factor, MSX1 which is required for normal tooth development.…”

Section: Discussionmentioning

confidence: 99%

Taurodontism in dental genetics

Roomaney

Beighton

2021

BDJ Open

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Taurodontism is a dental anomaly defined by enlargement of the pulp chamber of multirooted teeth with apical displacement of the pulp floor and bifurcation of the roots. Taurodontism can be an isolated trait or part of a syndrome. A study was conducted to document the dental and craniofacial aspects of genetic thin bone disorders in South Africa. Sixty-four individuals with Osteogenesis imperfecta (OI), one individual with Pyle disease and one with Torg-Winchester syndrome respectively, were assessed clinically, radiographically and at a molecular level. Ten patients with OI XI and those with Pyle disease and Torg-Winchester syndrome had taurodontism. Taurodontism has been identified in several genetic disorders necessitating cognizance of the possible existence and implications of this characteristic when managing patients in the dental environment. Further studies should be directed toward identifying the incidence, etiology, and molecular pathways leading to taurodontism and its relationship to genetic syndromes.

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Section: Discussionmentioning

confidence: 99%

Taurodontism in dental genetics

Roomaney

Beighton

2021

BDJ Open

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“…In this case, prevention was established in line with the Department of Health Preventative Toolkit, which included using fluoridated toothpaste with at least 1350ppm and reducing the frequency and amount of sugary food and drinks. 10…”

Section: Discussionmentioning

confidence: 99%

Ellis-van Creveld Syndrome

AlMuhanadi¹,

Ghatam²

2021

J Bah Med Soc

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Ellis-van Creveld syndrome, also known as chondroectodermal dysplasia, is a complex genetic disorder caused by the mutation of particular genes, characterized by dwarfism, polydactyly, abnormal nail structure, and dental malformations. Dental manifestations include enamel hypoplasia and hypodontia. Patients with Ellis-van Creveld syndrome may also have heart defects that would require specific diagnostic tools. The exact prevalence of this disorder remains poorly investigated because most risk groups are the Amish population, who refuse to share personal information voluntarily. We hereby present a case report of an eighteen-year-old young woman who presented with the chief complaint of poor appearance of teeth. The medical history includes ventricular hypertrophy and epilepsy. The patient had mandibular natal teeth that were removed. The first line of treatment was offered when the girl was seven, and standard check-ups and orthodontic manipulations were made within the last ten years. Overall, this case proves the importance of radiographic and physical examination, along with the multidisciplinary cooperation of dentists, surgeons, orthodontists, anesthetists, and cardiologists. Keywords: Dental enamel hypoplasia; Dwarfism; Ellis-van Creveld syndrome; Epilepsy; Malformed nails; Natal teeth

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“…The cardinal general phenotypic features of EvC include short stature and rhizomelia (Baker & Beales, 2009; Lauritano et al, 2019; Peraita‐Ezcurra et al, 2012), congenital heart defects (Baker & Beales, 2009; Lauritano et al, 2019; Niceta et al, 2018), thoracic cage defects (Lauritano et al, 2019; Tuna et al, 2016), defects of fingers and nails (Baker & Beales, 2009; Lauritano et al, 2019), leg and feet defects (Hegde, Puthran, Nair, & Nair, 2011; Jan et al, 2018; Veena, Jagadishchandra, Rao, & Chatra, 2011), and spine defects (Alves‐Pereira, Berini‐Aytés, & Gay‐Escoda, 2009). The specific craniofacial features include, but are not limited to, hypoplastic zygomatic bone, frontal bossing, low set ears (Lauritano et al, 2019; Shetty, Singh, Kumar, & Verma, 2012); dysmorphic philtrum (Jayaraj, Maheswaran, Suresh, & Ganapathy, 2012; Tuna et al, 2016); frenal/mucobuccal fold abnormalities (Naqash, Alshahrani, & Simasetha, 2018; Nethan, Sinha, & Chandra, 2017; Peña‐Cardelles, Domínguez‐Medina, Cano‐Durán, Ortega‐Concepción, & Cebrián, 2019); over‐retained deciduous teeth (Kamal, Dahiya, Kaur, Bhardwaj, & Chaudhary, 2013; Veena et al, 2011); and tooth abnormalities (Babaji, 2010; Lauritano et al, 2019; Naqash et al, 2018; Peña‐Cardelles et al, 2019). These abnormalities are attributed to the defects in the morphodifferentiation and histodifferentiation, secondary to abnormal ciliary function.…”

Section: Evc the Phenotypementioning

confidence: 99%

Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis–van Creveld syndrome

Thomas

Moorthy²,

Prabhakar

et al. 2022

American J of Med Genetics Pt C

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Ellis–van Creveld syndrome (EvC) is an autosomal recessive genetic disorder involving pathogenic variants of EVC and EVC2 genes and classified as a ciliopathy. The syndrome is caused by mutations in the EVC gene on chromosome 4p16, and EVC2 gene, located close to the EVC gene, in a head‐to‐head configuration. Regardless of the affliction of EVC or EVC2, the clinical features of Ellis–van Creveld syndrome are similar. Both these genes are expressed in tissues such as, but not limited to, the heart, liver, skeletal muscle, and placenta, while the predominant expression in the craniofacial tissues is that of EVC2. Biallelic mutations of EVC and EVC2 affect Hedgehog signaling and thereby ciliary function, crucial factors in vertebrate development, culminating in the phenotypical features characteristic of EvC. The clinical features of Ellis–van Creveld syndrome are consistent with significant abnormalities in morphogenesis and differentiation of the affected tissues. The robust role of primary cilia in histodifferentiation and morphodifferentiation of oral, perioral, and craniofacial tissues is becoming more evident in the most recent literature. In this review, we give a summary of the mechanistic role of primary cilia in craniofacial development, taking Ellis–van Creveld syndrome as a representative example.

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Oral manifestations of ellis-van creveld syndrome. A rare case report

Cited by 8 publications

References 10 publications

Taurodontism in dental genetics

Taurodontism in dental genetics

Ellis-van Creveld Syndrome

Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis–van Creveld syndrome

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