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The Floating-Harbor syndrome: two affected siblings in a family

J P Fryns1, A Kleczkowska, J Timmermans

  • 1Centre for Human Genetics, University of Leuven, Belgium.

Clinical Genetics
|October 1, 1996
PubMed

Insights

This report details two siblings with Floating-Harbor syndrome, characterized by growth retardation and developmental delays. One sibling experienced fatal infections, while the other exhibits mild intellectual disability.

Area of Science:

  • Genetics
  • Pediatrics
  • Rare Diseases

Background:

  • Floating-Harbor syndrome is a rare genetic disorder.
  • Characterized by distinctive facial features, developmental delays, and growth abnormalities.

Observation:

  • Two siblings presented with pre- and postnatal growth retardation.
  • Clinical signs were most compatible with Floating-Harbor syndrome diagnosis.

Findings:

  • The elder sibling, a female, succumbed to recurrent infections within her first year.
  • The younger sibling, a male, is 16.5 years old with mild intellectual disability.

Implications:

  • Highlights the variable and potentially severe clinical spectrum of Floating-Harbor syndrome.
  • Underscores the importance of early diagnosis and supportive care for affected individuals.
  • Contributes to the understanding of genetic factors influencing growth and neurodevelopment.

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