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The Floating-Harbor syndrome.

F Majewski1, H G Lenard

  • 1Institute of Human Genetics, Düsseldorf, Federal Republic of Germany.

European Journal of Pediatrics
|February 1, 1991
PubMed
Summary
This summary is machine-generated.

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This report details the seventh identified case of Floating-Harbor syndrome, a rare genetic disorder. The patient exhibits characteristic growth, facial, and developmental features consistent with this condition.

Area of Science:

  • Genetics
  • Pediatrics
  • Rare Diseases

Background:

  • Floating-Harbor syndrome is a rare genetic disorder characterized by distinctive facial features and developmental delays.
  • Previous literature describes a limited number of confirmed cases, highlighting its rarity.

Observation:

  • The seventh patient presented with proportionate intrauterine and postnatal growth retardation.
  • Distinctive facial features included a triangular face with a bulbous nose, short upper lip, and dorsally rotated ears.
  • Additional findings were normocephaly, long eyelashes, small vermilion border of the upper lip, deep nuchal hairline, hirsutism, and clinodactyly of the little fingers.

Findings:

  • The patient exhibited significant mental retardation and delayed speech development.
  • Clinical presentation aligns with previously documented cases of Floating-Harbor syndrome.

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  • The case contributes to the understanding of the phenotypic spectrum of this rare syndrome.

    • Implications:

    • This case expands the known patient cohort for Floating-Harbor syndrome.
    • Further research into the genetic basis and management strategies for Floating-Harbor syndrome is warranted.
    • Accurate diagnosis and understanding of this rare syndrome are crucial for affected individuals and families.