ArticleCurrent genomics2015
Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.
Article in Current genomics, 2015. 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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Who cites it
10 citing papers in PubMed.
- Trisomy 18 presenting with complete bilateral radial aplasia: a rare case report.BMC pediatrics · 2026Article
- Investigating the role connective tissue fibroblasts play in the altered muscle anatomy associated with the limb abnormality, Radial Dysplasia.Journal of anatomy · 2024Article
- Article
- A Novel Germline Pathogenic Variant ofIranian journal of medical sciences · 2023Article
- Thrombocytopenia With Absent Radii Syndrome With an Unusual Urological Pathology: A Case Report.Cureus · 2022Article
- Phenotypic Diversity of 15q11.2 BP1-BP2 Deletion in Three Korean Families with Development Delay and/or Intellectual Disability: A Case Series and Literature Review.Diagnostics (Basel, Switzerland) · 2021Article
- Congenital superior oblique palsy in a patient with Holt-Oram syndrome.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Review
- Clinical and epidemiological features of heart-hand syndrome, an updated analysis in China.BMC musculoskeletal disorders · 2020Article
- Thrombocytopenia with absent radii (TAR) syndrome in a female neonate: a case report.The Pan African medical journal · 2019Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Radial deficiencies (RDs), defined as under/abnormal development or absence of any of the structures of the forearm, radial carpal bones and thumb, occur with a live birth incidence ranging from 1 out of 30,000 to 1 out 6,000 newborns and represent about one third/one fourth of all the congenital upper limb anomalies. About half of radial disorders have a mendelian cause and pattern of inheritance, whereas the remaining half appears sporadic with no known gene involved. In sporadic forms certain anomalies, such as thumb or radial hypoplasia, may occur either alone or in association with systemic conditions, like vertebral abnormalities or renal defects. All the cases with a mendelian inheritance are syndromic forms, which include cardiac defects (in Holt-Oram syndrome), bone marrow failure (in Fanconi anemia), platelet deficiency (in thrombocytopenia-absent-radius syndrome), ocular motility impairment (in Okihiro syndrome). The genetics of radial deficiencies is complex, characterized by genetic heterogeneity and high inter- and intra-familial clinical variability: this review will analyze the etiopathogenesis and the genotype/phenotype correlations of the main radial deficiency disorders in humans.
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