I appreciated Dr Kirk Barber's excellent illustration of a branchial cleft sinus ("Dermclinic," CONSULTANT FOR PEDIATRICIANS, November 2009, page 389).
I appreciated Dr Kirk Barber's excellent illustration of a branchial cleft sinus ("Dermclinic," CONSULTANT FOR PEDIATRICIANS, November 2009, page 389). Dr Barber is correct in stating that most cases of branchial cleft sinus are isolated; however, it is important to consider the possibility of branchio-oto-renal (BOR) syndrome. This condition is characterized by variable combinations of branchial cleft cyst or sinus, abnormalities of the external ear, preauricular pits or tags, stenotic external auditory canal, middle or inner ear malformations, hearing loss, and renal malformations. Although BOR syndrome is inherited in an autosomal dominant pattern, findings in an affected child's parents may be only minor. Also, in 10% of cases, no affected parent is identified.
It is important that all children who present with branchial cleft anomalies be examined for ear malformations and have audiological testing. Renal ultrasonography should be strongly
considered to check for otherwise hidden renal malformations, which, in the most severe case, might progress to end-stage renal disease. A careful family history and evaluation of the patient's parents can help determine whether BOR syndrome is present. Referral to a medical geneticist can also aid in diagnosis and can ensure appropriate treatment for the entire family. Finally, molecular genetic testing for BOR syndrome is available.
Although rare, BOR syndrome can have important clinical implications, and early diagnosis may play a critical role in ensuring optimal outcomes for affected patients. I would urge readers to keep this condition in mind whenever a patient presents with branchial cleft anomalies.
--Kerry Baldwin Jedele, MD
La Crosse, Wis
I very much appreciate these comments. Our patients and colleagues are our best teachers.
--Kirk Barber, MD, FRCPC
Alberta Children's Hospital
Clinical Associate Professor of Medicine
and Community Health Sciences
University of Calgary