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Related Experiment Videos

Changing phenotype in Floating-Harbor syndrome

J H Hersh1, K R Groom, F F Yen

  • 1Child Evaluation Center, Department of Pediatrics, University of Louisville, Kentucky 40202-3828, USA.

American Journal of Medical Genetics
|March 21, 1998
PubMed
Summary
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Floating-Harbor syndrome can present with trigonocephaly, a skull shape recognizable in infancy. This craniofacial feature may become less noticeable as the child develops a triangular face.

Area of Science:

  • Genetics and rare diseases
  • Pediatric craniofacial abnormalities

Background:

  • Floating-Harbor syndrome is a rare genetic disorder.
  • Craniofacial anomalies are common in genetic syndromes.

Observation:

  • A case study of a girl with Floating-Harbor syndrome.
  • Observed features included trigonocephaly due to metopic suture synostosis, preauricular pit, hypoplastic thumb, subluxated radial head, and Sprengel deformity.

Findings:

  • Trigonocephaly may be a key early craniofacial manifestation of Floating-Harbor syndrome.
  • This skull shape is most apparent in infancy and may evolve into a triangular facial appearance.

Implications:

  • Early recognition of trigonocephaly can aid in diagnosing Floating-Harbor syndrome.

Related Experiment Videos

  • Understanding craniofacial changes is crucial for comprehensive patient management.