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Inner Ear Anomalies Are Frequent but Nonobligatory Features of the Branchio-oto-renal Syndrome
Martijn H. Kemperman, MD;
Sacha M. P. Koch, MD;
Frank B. M. Joosten, PhD;
Shrawan Kumar, PhD;
Patrick L. M. Huygen, PhD;
Cor W. R. J. Cremers, PhD
Arch Otolaryngol Head Neck Surg. 2002;128:1033-1038.
Objective To summarize the syndromic features and evaluate the presence of inner
ear anomalies in 35 patients with branchio-oto-renal (BOR) syndrome from 6
families.
Design Retrospective evaluation of magnetic resonance imaging of the temporal
bones and clinical features in patients with BOR syndrome.
Setting Tertiary referral center.
Patients The study population comprised 35 clinically affected patients with
BOR syndrome from 6 families. Most of these families were followed for over
25 years.
Main Outcome Measures Twenty-four patients underwent high-resolution, heavily T2-weighted
3-dimensional magnetic resonance imaging of the temporal bones for evaluation
of inner ear anomalies. Special attention was paid to the endolymphatic duct
and sac.
Results A total of 7 enlarged endolymphatic ducts and sacs (3 bilaterally and
4 unilaterally) and 5 enlarged endolymphatic ducts only (2 bilaterally and
3 unilaterally) were observed. Eight hypoplastic cochleas and 6 hypoplastic
labyrinths were seen bilaterally. Seven family members had normal inner ears.
Conclusion These findings suggest that inner ear anomalies are frequent but nonobligatory
features of BOR syndrome.
From the Departments of Otorhinolaryngology (Drs Kemperman, Koch, Huygen,
and Cremers) and Radiology (Dr Joosten), University Medical Center St Radboud,
Nijmegen, the Netherlands; and the Department of Genetics, Center for Hereditary
and Communication Disorders, Boys Town National Research Hospital, Omaha,
Neb (Dr Kumar).
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