Floating-Harbor syndrome associated with middle ear abnormalities.

Abstract

Floating-Harbor syndrome is a rare syndrome of unknown etiology, which was first described in 1973. A triad of main features characterizes Floating-Harbor syndrome: short stature, characteristic face, and an expressive speech delay. We present a patient in whom the hearing thresholds improved insufficiently after placement of grommets. High-resolution CT scan of the temporal bone showed a prominent soft-tissue thickening suspected of causing fixation of the malleus, and fusion of the malleus head with the body of the incus. To our knowledge this is the first reported abnormal middle ear anatomy in a patient with Floating-Harbor syndrome. A conservative treatment with hearing aids was preferred as an initial treatment in favor of a surgical exploration.

• Authors: Jan-Jaap Hendrickx, Kathelijn Keymolen, Brigitte Desprechins, Jan Casselman, Frans Gordts
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 152A Issue 1 Pg. 161-4 (Jan 2010) ISSN: 1552-4833 [Electronic] United States
• PMID: 20014123 (Publication Type: Case Reports, Journal Article)

Topics

• Body Height
• Child
• Ear, Middle (abnormalities, diagnostic imaging)
• Female
• Humans
• Speech Disorders
• Syndrome
• Tomography, X-Ray Computed