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

Biliary hypoplasia in Williams syndrome.

K O'Reilly1, S F Ahmed, V Murday

  • 1Royal Hospital for Sick Children, Glasgow, UK. oreillykmor@yahoo.co.uk

Archives of Disease in Childhood
|April 25, 2006
PubMed
Summary

Williams syndrome does not typically cause neonatal hepatitis or biliary hypoplasia. This case highlights a Williams syndrome presentation with neonatal conjugated hyperbilirubinaemia, which led to misdiagnosis.

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

Accuracy of large language model-based artificial intelligence tools for equine topics.

Journal of equine veterinary science·2026
Same author

Glucocorticoid-prescribing trends in congenital adrenal hyperplasia, 2017 to 2023.

Endocrine connections·2026
Same author

Effect of feeder style on intake rate of equine concentrates.

Journal of equine veterinary science·2026
Same author

Cultivating Inclusivity and Bridging Gaps Through Reverse Mentoring: A Feasibility Study Within the Royal College of Radiologists.

Clinical oncology (Royal College of Radiologists (Great Britain))·2024
Same author

Biomechanical and ergonomic risks associated with cervical musculoskeletal dysfunction amongst surgeons: A systematic review.

The surgeon : journal of the Royal Colleges of Surgeons of Edinburgh and Ireland·2024
Same author

Venous thromboembolism in Cushing syndrome: results from an EuRRECa and Endo-ERN survey.

Endocrine connections·2024

Area of Science:

  • Pediatric Gastroenterology
  • Medical Genetics

Background:

  • Williams syndrome is a genetic disorder characterized by distinct facial features, cardiovascular problems, and developmental delays.
  • Neonatal cholestasis, including conjugated hyperbilirubinaemia, is a critical condition requiring prompt diagnosis and management.

Observation:

  • A neonate presented with severe conjugated hyperbilirubinaemia, initially suggestive of neonatal hepatitis or biliary hypoplasia.
  • Clinical and genetic evaluation confirmed the diagnosis of Williams syndrome.

Findings:

  • Neonatal hepatitis and biliary hypoplasia are not recognized clinical features of Williams syndrome.
  • This case demonstrates that Williams syndrome can manifest with neonatal conjugated hyperbilirubinaemia, complicating the initial diagnostic process.

Implications:

  • This case underscores the importance of considering rare genetic syndromes in the differential diagnosis of neonatal cholestasis.
  • Early recognition of Williams syndrome in neonates with hyperbilirubinaemia can prevent diagnostic delays and guide appropriate management.

Related Experiment Videos