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Floating-Harbor syndrome associated with middle ear abnormalities.

Jan-Jaap Hendrickx¹, Kathelijn Keymolen, Brigitte Desprechins

¹Department of Otolaryngology & Head and Neck Surgery, Vrije Universiteit Brussel, Laarbeeklaan 109, 1090 Jette, Brussels, Belgium. j.j.hendrickx@planet.nl

American Journal of Medical Genetics. Part A

|December 17, 2009

Summary

Floating-Harbor syndrome, a rare genetic disorder, can affect middle ear anatomy, potentially impacting hearing. This case highlights abnormal malleus and incus fusion, suggesting a new diagnostic consideration for the syndrome.

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Area of Science:

Genetics
Otolaryngology
Pediatrics

Background:

Floating-Harbor syndrome is a rare genetic disorder characterized by short stature, distinctive facial features, and significant speech delay.
The etiology of Floating-Harbor syndrome remains largely unknown, with limited understanding of its full spectrum of clinical manifestations.

Observation:

A patient with Floating-Harbor syndrome presented with persistent hearing impairment despite tympanostomy tube (grommet) insertion.
High-resolution computed tomography (CT) of the temporal bone revealed unusual soft-tissue thickening.
This thickening was suspected to cause malleus fixation and fusion of the malleus head with the incus body.

Findings:

This case represents the first documented instance of abnormal middle ear anatomy in an individual diagnosed with Floating-Harbor syndrome.
The identified anatomical abnormality in the middle ear may contribute to conductive hearing loss in affected individuals.

Implications:

The findings suggest that middle ear structural anomalies should be considered in the audiological evaluation of patients with Floating-Harbor syndrome.
Further research is warranted to determine the prevalence and clinical significance of these otological findings in Floating-Harbor syndrome.
Conservative management with hearing aids was chosen initially over surgical intervention for this patient.