Syndromic Ear Anomalies and Renal Ultrasounds Raymond Y. Wang, MD*; Dawn L. Earl, RN, CPNP‡; Robert O. Ruder, MD§; and John M. Graham, Jr, MD, ScD‡ ABSTRACT. Objective. Although many pediatricians cific MCA syndromes that have high incidences of renal pursue renal ultrasonography when patients are noted to anomalies. These include CHARGE association, Townes- have external ear malformations, there is much confusion Brocks syndrome, branchio-oto-renal syndrome, Nager over which specific ear malformations do and do not syndrome, Miller syndrome, and diabetic embryopathy. require imaging. The objective of this study was to de- Patients with auricular anomalies should be assessed lineate characteristics of a child with external ear malfor- carefully for accompanying dysmorphic features, includ- mations that suggest a greater risk of renal anomalies. We ing facial asymmetry; colobomas of the lid, iris, and highlight several multiple congenital anomaly (MCA) retina; choanal atresia; jaw hypoplasia; branchial cysts or syndromes that should be considered in a patient who sinuses; cardiac murmurs; distal limb anomalies; and has both ear and renal anomalies. imperforate or anteriorly placed anus. If any of these Methods. Charts of patients who had ear anomalies features are present, then a renal ultrasound is useful not and were seen for clinical genetics evaluations between only in discovering renal anomalies but also in the diag- 1981 and 2000 at Cedars-Sinai Medical Center in Los nosis and management of MCA syndromes themselves. Angeles and Dartmouth-Hitchcock Medical Center in A renal ultrasound should be performed in patients with New Hampshire were reviewed retrospectively. Only pa- isolated preauricular pits, cup ears, or any other ear tients who underwent renal ultrasound were included in anomaly accompanied by 1 or more of the following: the chart review. The literature was reviewed for the other malformations or dysmorphic features, a family epidemiology of renal anomalies in the general popula- history of deafness, auricular and/or renal malforma- tion and in MCA syndromes with external ear anomalies. tions, or a maternal history of gestational diabetes. In the We defined a child as having an external ear anomaly absence of these findings, renal ultrasonography is not when he or she had any of the following: preauricular indicated. Pediatrics 2001;108(2). URL: http://www. pits and tags; microtia; anotia; or cup, lop, and other pediatrics.org/cgi/content/full/108/2/e32; external ear, re- forms of dysplastic ears. A child was defined as having a nal, anomalies, ultrasound. renal anomaly if an ultrasound revealed any of the fol- lowing: unilateral or bilateral renal agenesis; hypoplasia; crossed ectopia; horseshoe, pelvic, cystic kidney; hydro- ABBREVIATIONS. BOR, branchio-oto-renal; MCA, multiple con- nephrosis; duplicated ureters; megaureter; or vesico- genital anomaly; TBS, Townes-Brocks Syndrome; OAVS, oculoau- ureteric reflux. riculovertebral spectrum; M/A, microtia/anotia; IDM, infant of a Results. Because clinical genetics assessments were diabetic mother; TCS, Treacher Collins syndrome. made by the same clinician 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 any studies in the literature have noted a renal anomalies. Of the 12 patients with renal anomalies, significant association between renal anom- 11 (92%) also received a diagnosis of MCA syndrome. Malies and various ear anomalies. Ear pits Eleven of 33 patients (33%) with MCA syndromes had and tags, perhaps the most common minor ear mal- renal anomalies, whereas 1 of 9 patients (11%) with iso- formation, occur with a frequency of 5 to 6 per 1000 lated ear anomalies had renal anomalies. Specific disor- live births.1,2 In the pediatric population, structural ders seen were CHARGE association, Townes-Brocks renal anomalies occur in 1 to 3 per 100 live births.3–5 syndrome, branchio-oto-renal syndrome, Nager syn- Kohelet and Arbel6 noted that among 70 consecutive drome, and diabetic embryopathy. Conclusions. We conclude that ear malformations are children who had isolated preauricular tags and associated with an increased frequency of clinically sig- were examined by renal ultrasonography, 6 (8.6%) nificant structural renal anomalies compared with the had urinary tract abnormalities (5 with hydrone- general population. This is due to the observation that phrosis, 1 with horseshoe kidney). In a separate auricular malformations often are associated with spe- study, among 69 children who had preauricular si- nuses and were examined by renal ultrasound, 3 From the *University of California–Los Angeles, School of Medicine; ‡De- (4.3%) demonstrated renal anomalies (2 with hydro- partment of Medical Genetics, Ahmanson Department of Pediatrics, Steven nephrosis, 1 with branchio-oto-renal (BOR) syn- Spielberg Pediatric Research Center, Burns and Allen Research Institute, drome and an absent left kidney and hypoplastic Cedars-Sinai Medical Center and Department of Pediatrics, University of 7 3 California–Los Angeles; and §Department of Plastic and Reconstructive right kidney). A recent study of 32 589 consecutive Surgery, Cedars-Sinai Medical Center, University of California–Los Ange- live births, still births, and abortions over 10 years in les, Los Angeles, California. the Mainz Congenital Birth Defect Monitoring Sys- Received for publication Jan 18, 2001; accepted Apr 9, 2001. tem noted a 1.2% prevalence of renal anomalies. Reprint requests to (J.M.G.) 444 S San Vicente Blvd, Ste 1001, Mark Goodson External ear anomalies of all types, including defor- Building, Cedars-Sinai Medical Center, Los Angeles, CA 90048. PEDIATRICS (ISSN 0031 4005). Copyright © 2001 by the American Acad- mations from fetal constraint, were found in 19.0% of emy of Pediatrics. all newborns, compared with 23.8% in newborns http://www.pediatrics.org/cgi/content/full/108/2/Downloaded from www.aappublications.org/newse32 by guestPEDIATRICS on September Vol. 23, 2021 108 No. 2 August 2001 1of8 TABLE 1. Percentages of Patients Seen at Cedars-Sinai and Given the wealth of data indicating an association Dartmouth-Hitchcock Genetics Clinic With Renal Anomalies between ear and renal anomalies, the question is, Condition n Number With “Should all children with ear anomalies receive renal Renal Anomalies ultrasonography?” We note that in children with ear Isolated ear anomaly 9 1 (11%) anomalies, defects within all other organ systems MCA syndrome 33 11 (33%) occur with a frequency of 5% to 40%.1,2,8–10 We also Total 42 12 (28.5%) note that ear and renal anomalies are components of many multiple congenital anomaly (MCA) syn- TABLE 2. Percentages of Patients With MCA Syndrome and dromes. We present here data from our own genetics Renal Anomalies clinic regarding MCA syndrome diagnoses and the incidence of renal anomalies in patients with ear MCA Syndrome n Number With Renal Anomalies anomalies. We then review some of the more signif- icant MCA syndromes with ear and renal anomalies. CHARGE association 11 4 (36%) OAVS 8 0 (0%) METHODS BOR 7* 2 (29%) Diabetic embryopathy 3 2 (66%) Charts of patients who had ear anomalies and were seen for Nager syndrome 3 2 (66%) clinical genetics evaluations at Cedars-Sinai Medical Center and TBS 2 1 (50%) Dartmouth-Hitchcock Medical Center between 1981 and 2000 were reviewed retrospectively. Only patients who underwent re- * Several of these patients had been diagnosed previously as hav- nal ultrasound were included in the chart review. Because clinical ing Goldenhar syndrome because they had ear anomalies and genetics assessments were made by the same clinician at both sites epibulbar dermoids but were found subsequently to have linkage (J.M.G.), data were combined. The literature regarding MCA syn- to the locus on 8q for EYA1.11 dromes with ear anomalies was reviewed for epidemiology and reports of associated renal anomalies. with renal malformations, showing a slightly signif- RESULTS icant increased risk (odds ratio: 1.3) for renal anom- A total of 42 patients with ear anomalies received alies in children with ear anomalies. After patients a renal ultrasound; 12 (29%) of them displayed renal with syndromic diagnoses were excluded, there con- anomalies. These results are summarized in Table 1. tinued to be a strong association between auricular Of the 12 patients with renal anomalies, 11 (92%) also pits or cup ears and specific renal anomalies but no received a diagnosis of MCA syndrome. Percentages association between auricular tags and renal de- of renal anomalies in patients with an MCA syn- fects.3 drome are summarized in Table 2. Fig 1. Top, typical child with CHARGE association illustrating low-set, posteri- orly angulated ears with deficient carti- lage and absent lobules. Note the iris colobomas and facial asymmetry in this patient. Bottom, 4 pairs of ears from children affected with CHARGE associ- ation demonstrating typical auricular dysmorphology and asymmetry. 2of8 SYNDROMIC EARDownloaded ANOMALIES from www.aappublications.org/news AND RENAL ULTRASOUNDS by guest on September 23, 2021 Fig 2. TBS proband with mild auric- ular anomaly and hypoplastic thumbs (also had imperforate anus). Clinical Syndromes With Associated Renal Anomalies CHARGE association displaying iris colobomas; CHARGE Association/Syndrome choanal atresia; ear anomalies; and cranial nerve VII, IX, and X palsies with semicircular canal, cochlear, The majority of patients with CHARGE association 12,13 represent