Prevalence of renal anomalies in children with auricular malformations among attendance of Genetics Clinic in Ain Shams University
Objective: Although many pediatricians pursue renal ultrasonography when patients are noted to have external ear malformations, there is much confusion over which specific ear malformations do and do not require imaging. The objective of this study was to delineate characteristics of a child with external ear malformations that suggest a greater risk of renal anomalies. We highlight several multiple congenital anomaly (MCA) syndromes that should be considered in a patient who has both ear and renal anomalies. Patients and Methods: From September 2004 to April 2006, 50 patients with external ear anomalies (Preauricular pits and tags, low set ears, microtia, anotia, cup, phone, bat, and other forms of dysplastic ears) were consecutively recruited from the Genetics and Outpatient Clinic of Children's Hospital, Ain Shams University. Abdominal and pelvic ultrasound was done to each patient to screen for any renal anomaly. Results: 4 patients (8%) with external ear anomalies as a part of MCA syndrome had renal anomalies, in the form of left hydronephrotic changes (n=1; 2%), absent left kidney and bifid right renal pelvis (n=1; 2%), and bilateral reflux and hydronephrotic changes (n=2; 4%). Conclusions: Ear malformations are associated with an increased frequency of structural renal anomalies compared with the general population. This is because auricular malformations often are associated with specific MCA syndromes that have high incidences of renal anomalies. A renal ultrasound is useful not only in discovering renal anomalies, but also in the diagnosis and management of MCA syndromes themselves; it should be performed without delay in patients with ear anomalies, especially if those anomalies are part of MCA syndromes, in order to start conservative management or corrective surgery before irreversible kidney damage.
Keywords: Renal anomalies, auricular malformations, multiple congenital anomaly, syndromes
Egypt. J. Hum. Genet Vol. 8 (2) 2007: pp. 191-198