Craniofacial and dental development in Costello syndrome

Goodwin, Alice F.; Oberoi, Snehlata; Landan, Maya; Charles, Cyril; Massie, Jessica C.; Fairley, Cecilia; Klein, Ophir D.

doi:10.1002/ajmg.a.36475

Cited by 27 publications

(21 citation statements)

References 21 publications

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“…Individuals with CS have oral habits including a secondary tongue thrust, open mouth posture, and excessive teeth grinding/bruxism, resulting in an anterior open bite with a posterior crossbite (Goodwin et al, ). Individuals have a significantly increased incidence of Class III malocclusion (37%) whereby the maxillary first molar is positioned posteriorly to the mandibular first molar (Goodwin, Oberoi, et al, ). The majority have a narrow, high‐arched palate with thickening of the posterior maxillary and the anterior mandibular alveolar ridge.…”

Section: Dental and Oral Findingsmentioning

confidence: 99%

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Costello syndrome: Clinical phenotype, genotype, and management guidelines

Gripp

Morse

Axelrad

et al. 2019

American J of Med Genetics Pt A

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102

111

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Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS. Due to ubiquitous HRAS gene expression, CS affects multiple organ systems and individuals are predisposed to cancer. Individuals with CS may have distinctive craniofacial features, cardiac anomalies, growth and developmental delays, as well as dermatological, orthopedic, ocular, and neurological issues;however, considerable overlap with other RASopathies exists. Medical evaluation requires an understanding of the multifaceted phenotype. Subspecialists may have limited experience in caring for these individuals because of the rarity of CS. Furthermore, the phenotypic presentation may vary with the underlying genotype. These guidelines were developed by an interdisciplinary team of experts in order to encourage timely health care practices and provide medical management guidelines for the primary and specialty care provider, as well as for the families and affected individuals across their lifespan. These guidelines are

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Section: Dental and Oral Findingsmentioning

confidence: 99%

“…Microdontia has rarely been reported (Takahashi & Ohashi, ). Nearly all individuals with CS have an enamel defect characterized by demineralized white focal and striation lesions allowing pathologic wear due to increased susceptibility to abrasion and caries (Goodwin et al, ; Goodwin, Oberoi, et al, ).…”

Section: Dental and Oral Findingsmentioning

confidence: 99%

Costello syndrome: Clinical phenotype, genotype, and management guidelines

Gripp

Morse

Axelrad

et al. 2019

American J of Med Genetics Pt A

Self Cite

102

111

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“…229 Costello syndrome (OMIM: 214080) General information: RASopathy syndrome caused by germline mutations in the proto-oncogene HRAS. 230 More than 200 patients reported so far.…”

Section: Lenz-majewski Hyperostotic Dysplasia (Omim: 151050)mentioning

confidence: 99%

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Wagner

Poretti

Benson

et al. 2016

Journal of Neuroimaging

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Genetic skeletal disorders (GSDs) are a heterogeneous group characterized by an intrinsic abnormality in growth and (re-)modeling of cartilage and bone. A large subgroup of GSDs has additional involvement of other structures/organs beside the skeleton, such as the central nervous system (CNS). CNS abnormalities have an important role in long-term prognosis of children with GSDs and should consequently not be missed. Sensitive and specific identification of CNS lesions while evaluating a child with a GSD requires a detailed knowledge of the possible associated CNS abnormalities. Here, we provide a pattern-recognition approach for neuroimaging findings in GSDs guided by the obvious skeletal manifestations of GSD. In particular, we summarize which CNS findings should be ruled out with each GSD. The diseases (n = 180) are classified based on the skeletal involvement (1. abnormal metaphysis or epiphysis, 2. abnormal size/number of bones, 3. abnormal shape of bones and joints, and 4. abnormal dynamic or structural changes). For each disease, skeletal involvement was defined in accordance with Online Mendelian Inheritance in Man. Morphological CNS involvement has been described based on extensive literature search. Selected examples will be shown based on prevalence of the diseases and significance of the CNS involvement. CNS involvement is common in GSDs. A wide spectrum of morphological abnormalities is associated with GSDs. Early diagnosis of CNS involvement is important in the management of children with GSDs. This pattern-recognition approach aims to assist and guide physicians in the diagnostic work-up of CNS involvement in children with GSDs and their management.

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“…CS individuals have a distinct “coarse” facial appearance that includes relative macrocephaly with high forehead, bitemporal narrowing, hyperteloric appearance, downslanting palpebral fissures, epicanthal folds, short nose with depressed bridge and wide nasal tip, full cheeks, large mouth, thick lips and low‐set posteriorly rotated ears (Figure C,D). Intraoral findings include high‐arched palate and malocclusion with increased incidence of class III malocclusion, posterior crossbite and open bite (Figure C,D).…”

Section: Introductionmentioning

confidence: 99%

A review of craniofacial and dental findings of the RASopathies

Cao

Alrejaye

Klein

et al. 2017

Orthod Craniofacial Res

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Objectives The RASopathies are a group of syndromes that have in common germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway and have been a focus of study to understand the role of this pathway in development and disease. These syndromes include Noonan syndrome (NS); Noonan syndrome with multiple lentigines (NSML or LEOPARD syndrome); neurofibromatosis type 1 (NF1); Costello syndrome (CS); cardio-facio-cutaneous (CFC) syndrome; neurofibromatosis type 1-like syndrome (NFLS or Legius syndrome); and capillary malformation-arteriovenous malformation syndrome (CM-AVM). These disorders affect multiple systems, including the craniofacial complex. Although the craniofacial features have been well described and can aid in clinical diagnosis, the dental phenotypes have not been analyzed in detail for each of the RASopathies. In this review, we summarize the clinical features of the RASopathies, highlighting the reported craniofacial and dental findings. Methods Review of the literature. Results Each of the RASopathies reviewed, caused by mutations in genes that encode different proteins in the Ras pathway, have unique and overlapping craniofacial and dental characteristics. Conclusions Careful description of craniofacial and dental features in the RASopathies can provide information for dental clinicians treating these individuals and can also give insight into the role of Ras signaling in craniofacial development.

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Craniofacial and dental development in Costello syndrome

Cited by 27 publications

References 21 publications

Costello syndrome: Clinical phenotype, genotype, and management guidelines

Costello syndrome: Clinical phenotype, genotype, and management guidelines

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

A review of craniofacial and dental findings of the RASopathies

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