Syndromic ear anomalies and renal ultrasounds

Objective. Although many pediatricians pursue renal ultrasonography when pa tients are noted to have external ear malformations, there is much confusio n over which specific ear malformations do and do not require imaging. The objective of this study was to delineate characteristics of a child with ex ternal 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. Methods. Charts of patients who had ear anomalies and were seen for clinica l genetics evaluations between 1981 and 2000 at Cedars-Sinai Medical Center in Los Angeles and Dartmouth-Hitchcock Medical Center in New Hampshire wer e reviewed retrospectively. Only patients who underwent renal ultrasound we re included in the chart review. The literature was reviewed for the epidem iology of renal anomalies in the general population and in MCA syndromes wi th external ear anomalies. We defined a child as having an external ear ano maly when he or she had any of the following: preauricular pits and tags; m icrotia; anotia; or cup, lop, and other forms of dysplastic ears. A child w as defined as having a renal anomaly if an ultrasound revealed any of the f ollowing: unilateral or bilateral renal agenesis; hypoplasia; crossed ectop ia; horseshoe, pelvic, cystic kidney; hydronephrosis; duplicated ureters; m egaureter; or vesicoureteric reflux. Results. Because clinical genetics assessments were made by the same clinic ian at both sites (J.M.G.), data were combined. A total of 42 patients with ear anomalies received renal ultrasound; 12 (29%) of them displayed renal anomalies. Of the 12 patients with renal anomalies, 11 (92%) also received a diagnosis of MCA syndrome. Eleven of 33 patients (33%) with MCA syndromes had renal anomalies, whereas 1 of 9 patients (11%) with isolated ear anoma lies had renal anomalies. Specific disorders seen were CHARGE association, Townes-Brocks syndrome, branchio-oto-renal syndrome, Nager syndrome, and di abetic embryopathy. Conclusions. We conclude that ear malformations are associated with an incr eased frequency of clinically significant structural renal anomalies compar ed with the general population. This is due to the observation that auricul ar malformations often are associated with specific MCA syndromes that have high incidences of renal anomalies. These include CHARGE association, Town es-Brocks syndrome, branchio-oto-renal syndrome, Nager syndrome, Miller syn drome, and diabetic embryopathy. Patients with auricular anomalies should b e assessed carefully for accompanying dysmorphic features, including facial asymmetry; colobomas of the lid, iris, and retina; choanal atresia; jaw hy poplasia; branchial cysts or sinuses; cardiac murmurs; distal limb anomalie s; and imperforate or anteriorly placed anus. If any of these features are present, then a renal ultrasound is useful not only in discovering renal an omalies but also in the diagnosis and management of MCA syndromes themselve s. A renal ultrasound should be performed in patients with isolated preauri cular pits, cup ears, or any other ear anomaly accompanied by 1 or more of the following: other malformations or dysmorphic features, a family history of deafness, auricular and/or renal malformations, or a maternal history o f gestational diabetes. In the absence of these findings, renal ultrasonogr aphy is not indicated.