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[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
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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.

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.

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  • 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.