Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Holt-Oram syndrome.

Corina Lichiardopol1, C Militaru, B Popescu

  • 1Department of Endocrinology, University of Medicine and Pharmacy of Craiova, Romania. corinalich@gmail.com

Romanian Journal of Morphology and Embryology = Revue Roumaine De Morphologie Et Embryologie
|May 16, 2007
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Growth patterns and bone maturation in children with sex chromosomal (45,X/46,XY) differences of sex development.

European journal of endocrinology·2026
Same author

Gonadal Function and Its Evolution in 46,XX Testicular/Ovotesticular DSD.

The Journal of clinical endocrinology and metabolism·2025
Same author

Temporal Trends in Acute Adrenal Insufficiency Events in Children With Congenital Adrenal Hyperplasia During 2019-2022.

Journal of the Endocrine Society·2024
Same author

Influences of Dispersions' Shapes and Processing in Magnetic Field on Thermal Conductibility of PDMS-Fe<sub>3</sub>O<sub>4</sub> Composites.

Materials (Basel, Switzerland)·2021
Same author

Role of microRNAs in fluoropyrimidine-related toxicity: what we know.

European review for medical and pharmacological sciences·2021
Same author

Gonadectomy in conditions affecting sex development: a registry-based cohort study.

European journal of endocrinology·2021
Same journal

Eduard Pernkopf's Atlas: morphological innovation and ethical legacy in the history of anatomical illustration.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie·2026
Same journal

Differential histopathological features and comorbidity profiles in chronic rhinosinusitis phenotypes.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie·2026
Same journal

SEM evaluation of dental cement surface morphology and microbial adhesion - a comparative study.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie·2026
Same journal

Evaluation of neurotrophic therapies for sciatic nerve injury in mice.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie·2026
Same journal

A longitudinal study of dual-energy X-ray absorptiometry status in menopausal women with adrenal tumors.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie·2026
Same journal

Corticosteroid therapy in chronic rhinosinusitis with nasal polyps: from histopathological tissue remodeling to patient adherence and barriers.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie·2026
See all related articles

Holt-Oram syndrome, a genetic disorder affecting heart and limb development, is caused by TBX5 gene mutations. This case highlights its varied symptoms in a young adult male.

Area of Science:

  • Genetics
  • Cardiology
  • Orthopedics

Background:

  • Holt-Oram syndrome (HOS), or atriodigital dysplasia, is an autosomal dominant disorder.
  • It results from mutations in the TBX5 gene, with near-complete penetrance and variable expression.
  • HOS affects approximately 1 in 100,000 live births, with 60% familial and 40% sporadic cases.

Observation:

  • A 24-year-old male presented with a complex medical history.
  • He had bilateral coxa vara, surgically treated on the right, with subsequent osteochondritis.
  • Additional features included short stature, underweight, distinctive facial features, scoliosis, upper and lower limb abnormalities, and cardiac defects.

Findings:

  • The patient exhibited a wide spectrum of HOS manifestations.

Related Experiment Videos

  • Key findings included atrial septal defect (ostium secundum type) and incomplete right bundle branch block.
  • Skeletal anomalies comprised bilateral coxa vara, left thumb agenesis, and abnormal toe development.

    • Implications:

    • This case underscores the significant phenotypic variability of Holt-Oram syndrome.
    • Early recognition and comprehensive management are crucial for patients with HOS.
    • Understanding TBX5 gene mutations aids in diagnosing and counseling affected families.