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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
Summary
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.
- Understanding craniofacial changes is crucial for comprehensive patient management.