ReviewJournal of clinical research in pediatric endocrinology2014
Syndromic disorders with short stature.
Review in Journal of clinical research in pediatric endocrinology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 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
19 citing papers in PubMed.
- Extending curve matching with flexible hyperparameter selection to predict response to long-acting PEGylated growth hormone treatment in growth hormone deficiency children: method development and validation.Journal of endocrinological investigation · 2025Article
- Article
- Molecular diagnosis of patients with syndromic short stature identified by trio whole-exome sequencing.Frontiers in genetics · 2024Article
- Evaluation of the MC3R gene pertaining to body weight and height regulation and puberty development.Scientific reports · 2023Article
- Surfacing undiagnosed disease: consideration, counting and coding.Frontiers in pediatrics · 2023Review
- Novel Insights Into the Genetic Causes of Short Stature in Children.TouchREVIEWS in endocrinology · 2022Review
- Molecular genetic analysis and growth hormone response in patients with syndromic short stature.BMC medical genomics · 2021Article
- Finding commonalities in rare diseases through the undiagnosed diseases network.Journal of the American Medical Informatics Association : JAMIA · 2021Observational
- A novel frameshift mutation in theTranslational pediatrics · 2021Article
- A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population.PLoS genetics · 2020Article
- De Novo Duplication of Chromosome 9p in a Female Infant: Phenotype and Genotype Correlation.Journal of pediatric genetics · 2020Article
- Article
- Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.American journal of human genetics · 2019Article
- Potential oligogenic disease of mental retardation, short stature, spastic paraparesis, and osteopetrosis.The application of clinical genetics · 2018Article
- An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing.Annals of pediatric endocrinology & metabolism · 2017Article
- A Rare Presentation of Grossly Deformed Lungs in a Kyphoscoliotic Female Cadaver.Journal of clinical and diagnostic research : JCDR · 2017Article
- Case report: Anesthesia management for emergency cesarean section in a patient with dwarfism.BMC anesthesiology · 2015Article
- Application of Chromosomal Microarray for Evaluation of Idiopathic Short Stature in Asian Indian Children: A Pilot Study.Indian journal of endocrinology and metabolismArticle
- Russell-Silver syndrome associated with low conus medullaris.Journal of pediatric neurosciencesArticle
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. In this review, the relatively more frequently seen syndromes with short stature (Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome and Aarskog-Scott syndrome) were discussed. These disorders are associated with a number of endocrinopathies, as well as with developmental, systemic and behavioral issues. At present, GH therapy is used in most syndromic disorders, although long-term studies evaluating this treatment are insufficient and some controversies exist with regard to GH dose, optimal age to begin therapy and adverse effects. Before starting GH treatment, patients with syndromic disorders should be evaluated extensively.
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