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

[Robin-Silverman-Smith (fetal face) syndrome]

P Fehlow1, F Walther, T Pfeifer

  • 1Landesfachkrankenhaus für Psychiatrie und Neurologie, Mühlhausen/Thür.

Klinische Padiatrie
|November 1, 1995
PubMed
Summary

Fetal Face Syndrome, characterized by severe intellectual disability and a septum pellucidum cyst, can present with hypogenitalism. Early diagnosis is crucial for appropriate management and to prevent unnecessary penile plastic surgery.

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

Electron-impact ionization of CClF<sub>3</sub> and CHClF<sub>2</sub>: absolute cross sections and fragmentation dynamics.

Physical chemistry chemical physics : PCCP·2026
Same author

Electron impact single and double ionization and dissociation: revisiting CF<sub>4</sub> and CHF<sub>3</sub> with an improved experimental method.

Physical chemistry chemical physics : PCCP·2025
Same author

Absolute electron impact ionization cross-sections for CF4: Three dimensional recoil-ion imaging combined with the relative flow technique.

The Review of scientific instruments·2024
Same author

Closed-cycle noble gas recycling system for high-repetition rate high-harmonic generation.

The Review of scientific instruments·2024
Same author

Isotope effects in dynamics of water isotopologues induced by core ionization at an x-ray free-electron laser.

Structural dynamics (Melville, N.Y.)·2023
Same author

Ultrastable, high-repetition-rate attosecond beamline for time-resolved XUV-IR coincidence spectroscopy.

The Review of scientific instruments·2023

Area of Science:

  • Medical Genetics
  • Neurology
  • Pediatric Endocrinology

Background:

  • Fetal Face Syndrome (FFS) is a rare genetic disorder.
  • It is often associated with intellectual disability and distinctive facial features.
  • This report details a specific case highlighting neurological and endocrine aspects.

Observation:

  • A 30-year-old male patient with FFS presented with severe oligophrenia (intellectual disability).
  • A cyst of the septum pellucidum was identified as a co-occurring neurological finding.
  • The patient also exhibited hypogenitalism, specifically small genitalia.

Findings:

  • The case underscores the variable phenotypic expression of FFS.
  • It demonstrates a generally good prognosis for hypogenitalism associated with FFS.

Related Experiment Videos

  • Accurate diagnosis of FFS is essential for guiding patient care.

    • Implications:

    • Correct diagnosis of FFS can prevent unnecessary surgical interventions, such as penile plastic surgery.
    • Understanding the spectrum of FFS manifestations aids in comprehensive patient management.
    • This case contributes to the literature on FFS, emphasizing the importance of multidisciplinary assessment.