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

Cranio-metaphyseal dysplasia

D Gupta1, O P Sharma, A K Chaudhary

  • 1Department of Radiology, Banaras Hindu University, Varanasi, India.

Australasian Radiology
|February 1, 1993
PubMed
Summary

Cranio-metaphyseal dysplasia, a rare genetic disorder, was observed in two brothers presenting with distinct craniofacial and skeletal abnormalities. Early diagnosis and differentiation from similar conditions are crucial for management.

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

Terahertz time domain spectroscopy technique used for evaluation of thickness and optical cum dielectric properties of table and fertile eggshells.

Scientific reports·2025
Same author

Cryoprotective effect of zinc and gold nanoparticles during cooling and freeze-thawing on Marwari stallion sperm parameters and reactive oxygen species production.

Cryo letters·2025
Same author

A comparative study and trace- level detection of volatile organic biomarkers using UV-IR-THz sources based high -Q helmholtz photoacoustic sensor.

Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy·2024
Same author

Terahertz-based optoelectronic properties of ZnS quantum dot-polymer composites: For device applications.

Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy·2024
Same author

Linear and nonlinear optical characterization of tellurium dioxide (α-TeO<sub>2</sub>) for generation of terahertz radiation using time-domain spectroscopy.

Applied optics·2023
Same author

Low level detection of acetone vapor by improvised design of high "Q" tunable frequency Helmholtz photoacoustic cell using UV, mid- IR and THz sources.

Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy·2023

Area of Science:

  • Genetics
  • Pediatrics
  • Radiology

Background:

  • Cranio-metaphyseal dysplasia is a rare skeletal disorder.
  • Genetic factors are implicated in its etiology.
  • Accurate diagnosis is essential for patient management.

Observation:

  • Two brothers, aged 14 and 12, presented with cranio-metaphyseal dysplasia.
  • Clinical manifestations included deafness, recurrent respiratory infections, mouth breathing, and distinctive craniofacial features.
  • Skeletal abnormalities such as genu valgum and hallux valgus were noted.

Findings:

  • Radiographic examination revealed specific features like obtuse mandibular angle, defective dentition, sclerotic sinuses and mastoids, and splayed metaphyses.
  • The study highlights key differences for differentiating cranio-metaphyseal dysplasia from Pyle's disease (metaphyseal dysplasia).

Implications:

  • This case report contributes to understanding the clinical and radiographic spectrum of cranio-metaphyseal dysplasia.
  • Emphasizes the importance of distinguishing it from other metaphyseal dysplasias for appropriate treatment strategies.
  • Highlights the impact of associated conditions like deafness on cognitive and scholastic development.

Related Experiment Videos