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

Familial cervical dysplasia.

C L Saltzman1, R N Hensinger, C E Blane

  • 1University of Michigan, Ann Arbor 48109-0328.

The Journal of Bone and Joint Surgery. American Volume
|February 1, 1991
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

The effects of arousal on apical amplification and conscious state.

Neuroscience of consciousness·2018
Same author

Evaluation of tropically adapted straightbred and crossbred beef cattle: Cortisol concentration and measures of temperament at weaning and transport.

Journal of animal science·2018
Same author

[Aseptic loosening of total ankle replacement : One-stage revision ankle arthroplasty].

Operative Orthopadie und Traumatologie·2017
Same author

Does arousal enhance apical amplification and disamplification?

The Behavioral and brain sciences·2017
Same author

Tyrosine phosphorylation: a signal for the activation of the phagocyte respiratory burst.

Redox report : communications in free radical research·2016
Same author

Surgical procedures in patients with haemophilic arthropathy of the ankle.

Haemophilia : the official journal of the World Federation of Hemophilia·2016

An inherited cervical vertebral dysplasia affects multiple generations, with abnormalities in the first cervical vertebra. Early detection through family screening and imaging is crucial for managing this autosomal dominant condition.

Area of Science:

  • Genetics
  • Orthopedics
  • Radiology

Background:

  • A family presented with an inherited form of cervical vertebral dysplasia spanning three generations.
  • The condition primarily affects the first cervical vertebra (atlas), with some individuals exhibiting defects in the axis and surrounding structures.

Purpose of the Study:

  • To describe the clinical, radiological, and genetic features of an inherited cervical vertebral dysplasia.
  • To emphasize the importance of early diagnosis and management in affected families.

Main Methods:

  • Clinical examination of affected family members.
  • Radiographic evaluation including lateral cervical spine radiographs (flexion and extension).
  • Three-dimensional computed tomography (3D-CT) and magnetic resonance imaging (MRI) for detailed anatomical and cord assessment.

Related Experiment Videos

Main Results:

  • Nine out of twelve family members were affected, exhibiting abnormalities of the first cervical vertebra.
  • Two symptomatic patients presented with head tilt and suboccipital pain due to anterior atlanto-occipital dislocation.
  • Autosomal dominant inheritance with complete penetrance and variable expressivity was observed.

Conclusions:

  • Physicians should consider screening family members of individuals with this congenital cervical spine malformation due to its high penetrance.
  • Clinical signs like head tilt or limited neck motion warrant further investigation, including specialized imaging.
  • Regular follow-up and re-examination are essential for patients with diagnosed abnormalities to monitor for neurological compromise.