ReviewAnnals of pediatric endocrinology & metabolism2013
Genetic syndromes associated with overgrowth in childhood.
Review in Annals of pediatric endocrinology & metabolism, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 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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Who cites it
10 citing papers in PubMed.
- Prolonged Survival With Homozygous Deletion of Exon 9 in Perlman Syndrome: A Case Report.Case reports in genetics · 2026Article
- A Korean boy with a CHD8 mutation who presented with overgrowth, intellectual disability, and autism.Annals of pediatric endocrinology & metabolism · 2023Article
- Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome.Hormones (Athens, Greece) · 2023Review
- Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study.Frontiers in pediatrics · 2023Article
- Characterization of tRNA expression profiles in large offspring syndrome.BMC genomics · 2022Article
- Co-occurrence of a maternally inheritedCold Spring Harbor molecular case studies · 2018Article
- Sotos syndrome associated with Hirschsprung's disease: a new case and exome-sequencing analysis.Pediatric research · 2017Article
- Syndrome-Associated Tumors by Organ System.Journal of pediatric genetics · 2016Review
- Identifying a Deletion Affecting Total Lung Capacity Among Subjects in the COPDGene Study Cohort.Genetic epidemiology · 2016Article
- PANDAS and comorbid Kleine-Levin syndrome.Journal of child and adolescent psychopharmacology · 2015Article
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Authors and funding
1 author.
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Abstract
Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology of specific overgrowth disorders continue to improve clinicians' ability to make an accurate diagnosis. Among them, this paper introduces two classic genetic overgrowth syndromes: Sotos syndrome and Beckwith-Wiedemann syndrome. Historically, the diagnosis was based entirely on clinical findings. However, it is now understood that Sotos syndrome is caused by a variety of molecular genetic alterations resulting in haploinsufficiency of the NSD1 gene at chromosome 5q35 and that Beckwith-Wiedemann syndrome is caused by heterogeneous abnormalities in the imprinting of a number of growth regulatory genes within chromosome 11p15 in the majority of cases. Interestingly, the 11p15 imprinting region is also associated with Russell-Silver syndrome which is a typical growth retardation syndrome. Opposite epigenetic alterations in 11p15 result in opposite clinical features shown in Beckwith-Wiedemann syndrome and Russell-Silver syndrome. Although the exact functions of the causing genes have not yet been completely understood, these overgrowth syndromes can be good models to clarify the complex basis of human growth and help to develop better-directed therapies in the future.
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