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Auditory Dysfunction in Stickler Syndrome
Yvonne M. Szymko-Bennett, PhD;
Mary A. Mastroianni, MS;
Lawrence I. Shotland, PhD;
Joie Davis, CPNP, MSN;
Frank G. Ondrey, MD, PhD;
Joan Z. Balog, RN, MSN;
Susan F. Rudy, MSN, CRNP, CORLN;
Linda McCullagh, MSN;
Howard P. Levy, MD;
Ruth M. Liberfarb, MD, PhD;
Clair A. Francomano, MD;
Andrew J. Griffith, MD, PhD
Arch Otolaryngol Head Neck Surg. 2001;127:1061-1068.
Objectives To characterize the natural history and possible mechanisms of hearing
loss in Stickler syndrome (OMIM 108300; or hereditary progressive arthro-ophthalmopathy)
and to determine if the auditory phenotype is a useful discriminating feature
for the differential diagnosis of this group of disorders.
Design Multifamily study.
Setting Outpatient audiology and otolaryngology clinics at the Warren Grant
Magnuson Clinical Center of the National Institutes of Health, Rockville,
Md.
Subjects Forty-six affected individuals from 29 different families segregating
Stickler syndrome.
Interventions Clinical audiologic and otolaryngological examinations were performed
on all individuals, including pure-tone audiometry, speech audiometry, and
middle ear immittance testing. Otoacoustic emissions, auditory brainstem response,
infrared video electronystagmography, and temporal bone computed tomography
were performed on a subset of participants.
Results The hearing loss was most often sensorineural in adults, and approximately
28 (60%) of the 46 adult patients had 2 or more thresholds greater than the
corresponding 95th percentile values for an age-matched, otologically normal
population. The hearing loss most often affected high frequencies (4000-8000
Hz) and was generally no more progressive than that due to age-related hearing
loss. Type AD tympanograms (classification using the Jerger model),
indicating hypermobile middle ear systems, were observed in 21 (46%) of the
46 affected individuals. Computed tomography of the temporal bones revealed
no inner ear malformations in 19 affected individuals.
Conclusions The hypermobile middle ear systems observed in ears with normal-appearing
tympanic membranes represent a novel finding for Stickler syndrome and are
likely to be a useful diagnostic feature for this disorder. The overall sensorineural
hearing loss in type I Stickler syndrome is typically mild and not significantly
progressive. It is less severe than that reported for types II and III Stickler
syndrome linked to COL11A2 (OMIM 120290) and COL11A1 (OMIM 120280) mutations, respectively, or the closely
related Marshall syndrome. This difference will be a useful discriminatory
feature in the differential diagnosis of this group of disorders.
From the Hearing Section, Neuro-Otology Branch (Drs Szymko-Bennett,
Shotland, and Griffith and Mss Mastroianni, Rudy, and McCullagh), Head and
Neck Surgery Branch (Dr Ondrey), Laboratory of Molecular Genetics, National
Institute on Deafness and Other Communication Disorders (Dr Griffith), and
the National Human Genome Research Institute, National Institutes of Health
(Mss Davis and Balog and Drs Levy, Liberfarb, and Francomano), Bethesda, Md.
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