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

Brachyolmia and spinal stenosis.

Masza Mukamel1, Boaz Karmazyn, Liat de Vries

  • 1Rheumatology Unit, Schneider Children's Medical Center of Israel, Sackler Faculty of Medicine, Tel Aviv University, Petah Tikva, Israel. mukamel@bezeqint.net

American Journal of Medical Genetics. Part A
|July 2, 2003
PubMed
Summary

This study details two siblings with Hobaek-type brachyolmia, a rare skeletal dysplasia, who also developed spinal stenosis. This rare combination suggests new genetic variations within brachyolmia types.

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

Disseminated Tuberculosis With Cavitary Lung Disease in a Very Preterm Infant.

Pediatrics·2026
Same author

Diagnostic performance of radiography and whole-spine MRI for detecting vertebral fractures in suspected child abuse.

Child abuse & neglect·2026
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

A Real World Analysis of Imaging Compared to Biopsy for Diagnosis of Pediatric Liver Tumors.

Pediatric gastroenterology, hepatology & nutrition·2026
Same author

Lack of clinical change in longitudinal vibration controlled transient elastography among children with cystic fibrosis and poor association with non-invasive biomarkers of liver disease.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2026
Same author

Adiposity rebound and height velocity in patients with congenital adrenal hyperplasia.

European journal of endocrinology·2026

Area of Science:

  • Orthopedics
  • Genetics
  • Radiology

Background:

  • Brachyolmia is a rare skeletal dysplasia causing short stature and platyspondyly.
  • It is genetically heterogeneous with four known types based on radiological and genetic data.

Observation:

  • Two siblings presented with Hobaek-type brachyolmia.
  • Both siblings also developed spinal stenosis, a complication not previously documented in brachyolmia.

Findings:

  • The co-occurrence of Hobaek-type brachyolmia and spinal stenosis in siblings is reported for the first time.
  • This presentation indicates potential novel genetic factors contributing to brachyolmia and its complications.

Implications:

  • Highlights the need for further research into the genetic underpinnings of brachyolmia.

Related Experiment Videos

  • Suggests that patients with brachyolmia may require monitoring for spinal stenosis.
  • Broadens the understanding of skeletal dysplasia heterogeneity.