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Related Experiment Videos

Hypertrichosis, Fallot tetralogy, growth and developmental delay.

Alain Verloes1, Martial Massin, Anne-Catherine Fransolet

  • 1Clinical Genetic Unit, Robert Debré Hospital and INSERM E9935, Paris, France Cardiology Neurology, University Dept of Pediatrics, Hôpital de la Citadelle, Liège, Belgium.

Clinical Dysmorphology
|September 15, 2004
PubMed
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This study describes a new genetic disorder characterized by growth deficiency, heart defects, and excessive hair growth (hypertrichosis lanuginosa). The condition presents unique features distinguishing it from similar known syndromes.

Area of Science:

  • Genetics
  • Pediatrics
  • Dermatology

Background:

  • Syndromal hypertrichoses are rare genetic disorders characterized by excessive hair growth.
  • Distinguishing between different types of syndromal hypertrichoses is crucial for accurate diagnosis and management.

Observation:

  • A female patient presented with prenatal and postnatal growth deficiency.
  • She exhibited tetralogy of Fallot, generalized hypertrichosis lanuginosa, and trichomegaly (very long eyelashes).
  • Additional features included brain atrophy with epilepsy, and puffy hands and feet.

Findings:

  • The patient's unique combination of symptoms suggests a novel syndromal hypertrichosis.
  • This condition appears pathogenetically related to, yet clinically distinct from, Ambras syndrome and Oliver-McFarlane syndrome.

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  • The findings expand the spectrum of known genetic disorders associated with hypertrichosis.

    • Implications:

    • This case highlights the importance of recognizing rare genetic syndromes.
    • Further research is needed to elucidate the specific genetic basis and pathogenesis of this new entity.
    • Understanding this distinct syndrome can improve diagnostic accuracy and inform future therapeutic strategies.