ArticleEuropean journal of pediatrics2008
Costello syndrome: clinical diagnosis in the first year of life.
Article in European journal of pediatrics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 48 citations in OpenAlex.
- Reply: RASopathy Syndrome: Do Not Overlook Mitral Valve Anomalies!JACC. Case reports · 2024Article
- RASopathy Syndrome: Do Not Overlook Mitral Valve Anomalies!JACC. Case reports · 2024Article
- Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes.Frontiers in endocrinology · 2023Review
- Rapid Weight Loss and Severe Failure to Thrive Mimicking Lipodystrophy Syndrome in a 1-Year-Old Taiwanese Girl with Costello Syndrome.Children (Basel, Switzerland) · 2022Article
- Costello syndrome: Clinical phenotype, genotype, and management guidelines.American journal of medical genetics. Part A · 2019Article
- Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.American journal of medical genetics. Part A · 2017Article
- Respiratory system involvement in Costello syndrome.American journal of medical genetics. Part A · 2016Article
- Gingival enlargements: Differential diagnosis and review of literature.World journal of clinical cases · 2015Review
- Cardiac events in Costello syndrome: One case and a review of the literature.Journal of the Saudi Heart Association · 2014Article
- A Novel Missense Mutation in BRAF Caused Cardio-Facio-Cutaneous Syndrome.Iranian journal of pediatrics · 2013Article
- Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.Neurogenetics · 2013Article
- C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.European journal of human genetics : EJHG · 2012Article
- Decreased bone mineralization in children with Noonan syndrome: another consequence of dysregulated RAS MAPKinase pathway?Molecular genetics and metabolism · 2012Article
- Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development.The British journal of dermatology · 2012Article
- [Costello syndrome: report of a case].The Pan African medical journal · 2012Article
- RASopathies: Clinical Diagnosis in the First Year of Life.Molecular syndromology · 2011Article
- Refinement of the GINGF3 locus for hereditary gingival fibromatosis.European journal of pediatrics · 2010Article
- Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.Prenatal diagnosis · 2009Article
- Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia.American journal of human genetics · 2009Article
- Enema-induced severe hyperphosphatemia in children.European journal of pediatrics · 2009Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report on three patients with Costello syndrome (CS) diagnosed during the first year of life and try to outline the clinical characteristics facilitating early recognition of this syndrome, which can now be corroborated by testing the HRAS gene. Phenotypical overlap of CS with Noonan (NS) and cardiofaciocutaneous syndrome (CFCS), particularly in neonatal age, is well known. Diagnostic features useful for recognition of CS in the first year of life are the following: (1) fetal and neonatal macrosomia with subsequent slow growth due to severe feeding difficulties, (2) developmental delay, (3) particularly coarse facial dysmorphisms and gingival hyperplasia, (4) skeletal anomalies as osteoporosis and metaphyseal enlargement, (5) hypertrophic cardiomyopathy (HCM) with asymmetric septal thickening and systolic anterior motion of the mitral valve, and (6) specific atrial arrhythmias. Following a clinical suspect of CS based on specific features, molecular screening of HRAS gene mutations should precede analysis of the other genes in the Ras-MAPK pathway implicated in related disorders with overlapping phenotypes.
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