SynthesisAmerican journal of medical genetics. Part A2010
High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities.
Synthesis in American journal of medical genetics. Part A, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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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.
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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
50 citing papers in PubMed, 99 citations in OpenAlex.
- Mechanisms of brain overgrowth in autism spectrum disorder with macrocephaly.Frontiers in neuroscience · 2025Review
- Chiari 1 malformation in patient with Noonan syndrome: A case report and review of literature.Surgical neurology international · 2025Article
- The Genetics of Chiari 1 Malformation.Journal of clinical medicine · 2024Review
- The RASopathies: from pathogenetics to therapeutics.Disease models & mechanisms · 2022Review
- Syndromic Hydrocephalus.Neurosurgery clinics of North America · 2022Review
- Multidisciplinary Management of Costello Syndrome: Current Perspectives.Journal of multidisciplinary healthcare · 2022Review
- Chiari I malformation in patients with RASopathies.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Review
- Genes causing congenital hydrocephalus: Their chromosomal characteristics of telomere proximity and DNA compositions.Experimental neurology · 2021Review
- "Growing cerebellum" requiring operative decompression following perinatal ventriculoperitoneal shunting.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Review
- Tonsillar herniation spectrum: more than just Chiari I. Update and controversies on classification and management.Neurosurgical review · 2020Review
- Treatment of Dystonia Using Trihexyphenidyl in Costello Syndrome.Brain sciences · 2020Article
- Macrocerebellum in Achondroplasia: A Further CNS Manifestation ofAJNR. American journal of neuroradiology · 2020Article
- The impact of RASopathy-associated mutations on CNS development in mice and humans.Molecular brain · 2019Review
- Chiari type I and hydrocephalus.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2019Review
- Chiari I malformation in defined genetic syndromes in children: are there common pathways?Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2019Article
- Comparative Volumetric Analysis of the Brain and Cerebrospinal Fluid in Chiari Type I Malformation Patients: A Morphological Study.Brain sciences · 2019Article
- Costello syndrome: Clinical phenotype, genotype, and management guidelines.American journal of medical genetics. Part A · 2019Article
- Precocious puberty and Chiari I malformation with syrinx: a case report of an unusual presentation of Costello syndrome.International journal of pediatric endocrinology · 2019Article
- Patient-derived iPSCs show premature neural differentiation and neuron type-specific phenotypes relevant to neurodevelopment.Molecular psychiatry · 2018Article
- Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.American journal of human genetics · 2018Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
Costello syndrome is a rasopathy caused by germline mutations in the proto-oncogene HRAS. Its presentation includes failure-to-thrive with macrocephaly, characteristic facial features, hypertrophic cardiomyopathy, papillomata, malignant tumors, and cognitive impairment. In a systematic review we found absolute or relative macrocephaly (100%), ventriculomegaly (50%), and other abnormalities on brain and spinal cord imaging studies in 27/28 individuals. Posterior fossa crowding with cerebellar tonsillar herniation (CBTH) was noted in 27/28 (96%), and in 10/17 (59%) with serial studies posterior fossa crowding progressed. Sequelae of posterior fossa crowding and CBTH included hydrocephalus requiring shunt or ventriculostomy (25%), Chiari 1 malformation (32%), and syrinx formation (25%). Our data reveal macrocephaly with progressive frontal bossing and CBTH, documenting an ongoing process rather than a static congenital anomaly. Comparison of images obtained in young infants to subsequent studies demonstrated postnatal development of posterior fossa crowding. This process of evolving megalencephaly and cerebellar enlargement is in keeping with mouse model data, delineating abnormal genesis of neurons and glia, resulting in an increased number of astrocytes and enlarged brain volume. In Costello syndrome and macrocephaly-capillary malformation syndrome disproportionate brain growth is the main factor resulting in postnatal CBTH and Chiari 1 malformation.
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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.