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Floating‐Harbor syndrome associated with middle ear abnormalities
Author(s) -
Hendrickx JanJaap,
Keymolen Kathelijn,
Desprechins Brigitte,
Casselman Jan,
Gordts Frans
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33033
Subject(s) - malleus , incus , medicine , middle ear , temporal bone , etiology , hearing loss , thickening , stapes , surgery , anatomy , audiology , pathology , chemistry , polymer science
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. © 2009 Wiley‐Liss, Inc.