ArticlePrenatal diagnosis2009
Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.
Article in Prenatal diagnosis, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
17 citing papers in PubMed, 61 citations in OpenAlex.
- Fetal tachyarrhythmias: current knowledge for clinical practice.Translational pediatrics · 2025Review
- Mechanisms of brain overgrowth in autism spectrum disorder with macrocephaly.Frontiers in neuroscience · 2025Review
- The Surgical Management of Severe Scoliosis in Immature Patient with a Very Rare Disease Costello Syndrome-Clinical Example and Brief Literature Review.Life (Basel, Switzerland) · 2024Article
- Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review.Molecular syndromology · 2022Review
- Multidisciplinary Management of Costello Syndrome: Current Perspectives.Journal of multidisciplinary healthcare · 2022Review
- Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia.Molecular syndromology · 2020Article
- Fetal arrhythmias: prenatal evaluation and intrauterine therapeutics.Italian journal of pediatrics · 2020Review
- Costello syndrome: Clinical phenotype, genotype, and management guidelines.American journal of medical genetics. Part A · 2019Article
- A system-based approach to the genetic etiologies of non-immune hydrops fetalis.Prenatal diagnosis · 2019Review
- Fetal Arrhythmias: Genetic Background and Clinical Implications.Pediatric cardiology · 2019Review
- Cardiac events in Costello syndrome: One case and a review of the literature.Journal of the Saudi Heart Association · 2014Article
- Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.European journal of human genetics : EJHG · 2013Article
- Signaling to cardiac hypertrophy: insights from human and mouse RASopathies.Molecular medicine (Cambridge, Mass.) · 2012Review
- A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.American journal of medical genetics. Part A · 2012Article
- [Costello syndrome: report of a case].The Pan African medical journal · 2012Article
- Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.American journal of medical genetics. Part A · 2011Article
- Genetic considerations in the prenatal diagnosis of overgrowth syndromes.Prenatal diagnosis · 2009Review
Corrections and comments
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Authors and funding
12 authors at 7 institutions in 2 countries.
Funding
Abstract
objectiveDelineate prenatal features of Costello syndrome (caused by HRAS mutations), which consists of mental retardation, facial, cardiovascular, skin, and musculoskeletal anomalies, and tumor predisposition.
methodsLiterature and new cases classified as Group I (pre-HRAS), Group II (HRAS confirmed), and Group III (HRAS confirmed in natural history study, plus three contributed cases).
resultsPolyhydramnios occurred in most (mean 79%) pregnancies of cases in Groups I (98), II (107), and III (17); advanced paternal age and prematurity were noted in approximately half. Less frequent were nuchal thickening, ascites, shortened long bones, abnormal hand posture, ventriculomegaly, macrosomia, and macrocephaly. Fetal arrhythmia occurred in nine cases (six supraventricular or unspecified tachycardia, one unspecified arrhythmia, and two premature atrial contractions, PACs); excluding three new cases and two with PACs, the estimated prenatal frequency is 4/222 (2%).
conclusionCostello syndrome can be suspected prenatally when polyhydramnios is accompanied by nuchal thickening, hydrops, shortened long bones, abnormal hand posture, ventriculomegaly, large size, and macrocephaly, and especially fetal atrial tachycardia. Consideration should be given for timely prenatal diagnostic studies for confirmative HRAS gene mutations and for maternal treatment of serious fetal arrhythmia.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.