ArticleInternational journal of applied & basic medical research
Holt-Oram Syndrome: Hands are the Clue to the Diagnosis.
Article in International journal of applied & basic medical research. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 8 citations in OpenAlex.
- Experience with patients presenting with the clinical features of Holt-Oram syndrome: a single center retrospective study.Journal of cardiothoracic surgery · 2026Article
- Polydactyly and syndactyly linked to GLI3 and TBX5 mutations: A pediatric case report.Global medical genetics · 2025Article
- Holt-Oram Syndrome: An Incidental Diagnosis.Cureus · 2022Article
- Clinical and epidemiological features of heart-hand syndrome, an updated analysis in China.BMC musculoskeletal disorders · 2020Article
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Holt-Oram syndrome or heart-hand syndrome consists of phenotypic and genotypic abnormalities. It is characterized by abnormalities of upper limbs and congenital cardiac defects. It is an autosomal dominant disorder due to a mutation in TBX5 gene located on chromosome 12, but sporadic cases have also been reported. We describe a 26-year-old female with a history of shortness of breath for 5 years. She had bilateral hand deformities, and on evaluation, found to have ostium secundum atrial septal defect which is common cardiac defect in Holt-Oram syndrome.
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