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

Type 3 Pfeiffer syndrome with normal thumbs

N C Kerr1, R S Wilroy, R A Kaufman

  • 1Department of Ophthalmology, LeBonheur Children's Medical Center, University of Tennessee, Memphis, USA.

American Journal of Medical Genetics
|December 11, 1996
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

Utility of Pre-Hematopoietic Cell Transplantation Sinus CT Screening in Children and Adolescents.

AJNR. American journal of neuroradiology·2020
Same author

Full Dose-Reduction Potential of Statistical Iterative Reconstruction for Head CT Protocols in a Predominantly Pediatric Population.

AJNR. American journal of neuroradiology·2016
Same author

Estimating pediatric entrance skin dose from digital radiography examination using DICOM metadata: A quality assurance tool.

Medical physics·2015
Same author

Characterization of adaptive statistical iterative reconstruction algorithm for dose reduction in CT: A pediatric oncology perspective.

Medical physics·2012
Same author

Establishing a standard calibration methodology for MOSFET detectors in computed tomography dosimetry.

Medical physics·2012
Same author

High resolution imaging studies into the formation of laser-induced periodic surface structures.

Applied optics·2010

This study details a male infant with Pfeiffer syndrome type 3, exhibiting unique features like normal thumbs and absent FGFR1/FGFR2 mutations. Early recognition is crucial for genetic counseling and surgical planning.

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Case Reports

Background:

  • Pfeiffer syndrome (PS) is a genetic disorder characterized by craniosynostosis and limb abnormalities.
  • Type 3 PS typically presents with specific craniofacial and digital anomalies.
  • Genetic mutations in FGFR1 and FGFR2 are commonly associated with PS.

Observation:

  • A male infant presented with severe symptoms including shallow orbits, midface hypoplasia, choanal stenosis, and limb anomalies.
  • Radiological studies revealed skull base thickening, vertebral anomalies, and distinct toe and elbow deformities.
  • The patient exhibited features consistent with Pfeiffer syndrome type 3, but with normal thumbs.

Findings:

  • The patient's presentation aligned with type 3 Pfeiffer syndrome, including characteristic facial and skeletal findings.

Related Experiment Videos

  • Notably, the presence of normal thumbs is atypical for type 3 PS.
  • Genetic analysis did not identify mutations in FGFR1 or FGFR2, which are typically implicated in PS.

    • Implications:

    • This case highlights the phenotypic variability within Pfeiffer syndrome type 3.
    • The absence of typical mutations suggests potential novel genetic mechanisms or complex inheritance patterns.
    • Accurate diagnosis and understanding of PS variability are vital for genetic counseling, prognosis, and craniofacial surgical interventions.