{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T11:30:51Z","timestamp":1791891051431,"version":"4.3.4"},"reference-count":39,"publisher":"American Academy of Pediatrics (AAP)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2001,8,1]]},"abstract":"<jats:sec>\n                    <jats:title>Objective.<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods.<\/jats:title>\n                    <jats:p>Charts of patients who had ear anomalies and were seen for clinical genetics evaluations between 1981 and 2000 at Cedars-Sinai Medical Center in Los Angeles and Dartmouth-Hitchcock Medical Center in New Hampshire were reviewed retrospectively. Only patients who underwent renal ultrasound were included in the chart review. The literature was reviewed for the epidemiology of renal anomalies in the general population and in MCA syndromes with external ear anomalies. We defined a child as having an external ear anomaly when he or she had any of the following: preauricular pits and tags; microtia; anotia; or cup, lop, and other forms of dysplastic ears. A child was defined as having a renal anomaly if an ultrasound revealed any of the following: unilateral or bilateral renal agenesis; hypoplasia; crossed ectopia; horseshoe, pelvic, cystic kidney; hydronephrosis; duplicated ureters; megaureter; or vesicoureteric reflux.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results.<\/jats:title>\n                    <jats:p>Because clinical genetics assessments were 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 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 anomalies had renal anomalies. Specific disorders seen were CHARGE association, Townes-Brocks syndrome, branchio-oto-renal syndrome, Nager syndrome, and diabetic embryopathy.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions.<\/jats:title>\n                    <jats:p>We conclude that ear malformations are associated with an increased frequency of clinically significant structural renal anomalies compared with the general population. This is due to the observation that auricular malformations often are associated with specific MCA syndromes that have high incidences of renal anomalies. These include CHARGE association, Townes-Brocks syndrome, branchio-oto-renal syndrome, Nager syndrome, Miller syndrome, and diabetic embryopathy. Patients with auricular anomalies should be assessed carefully for accompanying dysmorphic features, including facial asymmetry; colobomas of the lid, iris, and retina; choanal atresia; jaw hypoplasia; branchial cysts or sinuses; cardiac murmurs; distal limb anomalies; and imperforate or anteriorly placed anus. If any of these features are present, then a renal ultrasound is useful not only in discovering renal anomalies but also in the diagnosis and management of MCA syndromes themselves. A renal ultrasound should be performed in patients with isolated preauricular 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 of gestational diabetes. In the absence of these findings, renal ultrasonography is not indicated.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1542\/peds.108.2.e32","type":"journal-article","created":{"date-parts":[[2004,8,13]],"date-time":"2004-08-13T19:55:51Z","timestamp":1092426951000},"page":"e32-e32","source":"Crossref","is-referenced-by-count":131,"title":["Syndromic Ear Anomalies and Renal Ultrasounds"],"prefix":"10.1542","volume":"108","author":[{"given":"Raymond Y.","family":"Wang","sequence":"first","affiliation":[{"name":"From the University of California\u2013Los Angeles, School of Medicine;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dawn L.","family":"Earl","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Burns and Allen Research Institute, Cedars-Sinai Medical Center and Department of Pediatrics, University of California\u2013Los Angeles; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert O.","family":"Ruder","sequence":"additional","affiliation":[{"name":"Department of Plastic and Reconstructive Surgery, Cedars-Sinai Medical Center, University of California\u2013Los Angeles, Los Angeles, California."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr","given":"John M.","family":"Graham","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Burns and Allen Research Institute, Cedars-Sinai Medical Center and Department of Pediatrics, University of California\u2013Los Angeles; and"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2001,8,1]]},"reference":[{"key":"2021121003555578200_B1","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1111\/j.1651-2227.1997.tb08860.x","article-title":"Preauricular tags and pits in the newborn: the role of hearing tests.","volume":"86","author":"Kugelman","year":"1997","journal-title":"Acta Paediatr"},{"key":"2021121003555578200_B2","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1111\/j.1651-2227.1987.tb10431.x","article-title":"Hearing impairment in connection with preauricular tags.","volume":"76","author":"Kankkunen","year":"1987","journal-title":"Acta Paediatr Scand"},{"key":"2021121003555578200_B3"},{"key":"2021121003555578200_B4","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1542\/peds.82.4.609","article-title":"Ultrasound screening of healthy infants for urinary tract abnormalities.","volume":"82","author":"Steinhart","year":"1988","journal-title":"Pediatrics"},{"key":"2021121003555578200_B5","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1002\/(SICI)1096-8628(19980630)78:2<140::AID-AJMG8>3.0.CO;2-S","article-title":"Epidemiological analysis of outcomes of pregnancy in gestational diabetic mothers.","volume":"78","author":"Mart\u0131\u0301nez-Fr\u0131\u0301as","year":"1998","journal-title":"Am J Med Genet"},{"key":"2021121003555578200_B6"},{"key":"2021121003555578200_B7","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1016\/0090-4295(92)90487-H","article-title":"Association of preauricular sinuses and renal anomalies.","volume":"40","author":"Leung","year":"1992","journal-title":"Urology"},{"key":"2021121003555578200_B8","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1136\/jmg.33.10.809","article-title":"The epidemiology of anotia and microtia.","volume":"33","author":"Harris","year":"1996","journal-title":"J Med Genet"},{"key":"2021121003555578200_B9","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1136\/jmg.32.6.453","article-title":"Epidemiology of and genetics of microtia-anotia: a registry based study on over one million births.","volume":"23","author":"Mastroiacovo","year":"1995","journal-title":"J Med Genet"},{"key":"2021121003555578200_B10","doi-asserted-by":"crossref","first-page":"374","DOI":"10.3928\/0090-4481-19990601-09","article-title":"The pediatrician's role in caring for patients with congenital microtia and atresia.","volume":"6","author":"Brent","year":"1999","journal-title":"Pediatr Ann."},{"key":"2021121003555578200_B11","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1177\/000992289803700302","article-title":"CHARGE association: an update and review for the primary pediatrician.","volume":"37","author":"Blake","year":"1998","journal-title":"Clin Pediatr"},{"key":"2021121003555578200_B12","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1002\/1096-8628(2000)9999:999<00::AID-AJMG1132>3.0.CO;2-J","article-title":"Editorial comment: a recognizable syndrome within CHARGE association: Hall-Hitner Syndrome.","volume":"99","author":"Graham","year":"2001","journal-title":"Am J Med Genet."},{"key":"2021121003555578200_B13","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1002\/1096-8628(20010301)99:2<124::AID-AJMG1114>3.0.CO;2-9","article-title":"Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome.","volume":"99","author":"Amiel","year":"2001","journal-title":"Am J Med Genet"},{"key":"2021121003555578200_B14","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1002\/(SICI)1096-8628(19980413)76:5<402::AID-AJMG7>3.0.CO;2-O","article-title":"CHARGE syndrome: report of 47 cases and review.","volume":"76","author":"Tellier","year":"1998","journal-title":"Am J Med Genet"},{"key":"2021121003555578200_B15","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1038\/ng0198-81","article-title":"Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.","volume":"18","author":"Kohlhase","year":"1998","journal-title":"Nat Genet"},{"key":"2021121003555578200_B16","first-page":"89","article-title":"Townes-Brocks syndrome.","volume":"36","author":"Powell","year":"1999","journal-title":"J Med Genet"},{"key":"2021121003555578200_B17","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1177\/000992288702600308","article-title":"Thumb polydactyly as a part of the range of genetic expression for thenar hypoplasia.","volume":"26","author":"Graham","year":"1987","journal-title":"Clin Pediatr"},{"key":"2021121003555578200_B18","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1136\/jmg.37.6.458","article-title":"A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype.","volume":"37","author":"Engels","year":"2000","journal-title":"J Med Genet"},{"key":"2021121003555578200_B19","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1002\/(SICI)1096-8628(19960111)61:2<134::AID-AJMG6>3.0.CO;2-X","article-title":"Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar\/oculoauriculovertebral spectrum.","volume":"61","author":"Johnson","year":"1996","journal-title":"Am J Med Genet"},{"key":"2021121003555578200_B20","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1002\/ajmg.1320260215","article-title":"Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients.","volume":"26","author":"Rollnick","year":"1987","journal-title":"Am J Med Genet"},{"key":"2021121003555578200_B21","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1016\/S0188-0128(98)00023-2","article-title":"Microtia: a clinical and genetic study at the National Institute of Pediatrics in Mexico City.","volume":"30","author":"Llano-Rivas","year":"1999","journal-title":"Arch Med Res"},{"key":"2021121003555578200_B22"},{"key":"2021121003555578200_B23","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1159\/000484770","article-title":"BOR and BO syndromes are allelic defects of EYA1.","volume":"5","author":"Vincent","year":"1997","journal-title":"Eur J Hum Genet"},{"key":"2021121003555578200_B24","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1002\/(SICI)1096-8628(19980413)76:5<395::AID-AJMG6>3.0.CO;2-M","article-title":"Autosomal dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13.","volume":"76","author":"Kumar","year":"1998","journal-title":"Am J Med Genet"},{"key":"2021121003555578200_B25","doi-asserted-by":"crossref","first-page":"1715","DOI":"10.1086\/302890","article-title":"Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications.","volume":"66","author":"Kumar","year":"2000","journal-title":"Am J Hum Genet"},{"key":"2021121003555578200_B26","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1002\/(SICI)1096-9926(199610)54:4<171::AID-TERA1>3.0.CO;2-4","article-title":"Multifactorial basis of the syndrome of diabetic embryopathy.","volume":"54","author":"Reece","year":"1996","journal-title":"Teratology"},{"key":"2021121003555578200_B27","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/S0002-9378(00)70217-1","article-title":"Patterns of congenital anomalies and relationship to initial maternal fasting glucose levels in pregnancies complicated by type 2 and gestational diabetes.","volume":"182","author":"Schaefer-Graf","year":"2000","journal-title":"Am J Obstet Gynecol"},{"key":"2021121003555578200_B28","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<303::AID-AJMG8>3.0.CO;2-Q","article-title":"Oculoauricularvertebral abnormalities in children of diabetic mothers.","volume":"90","author":"Ewart-Toland","year":"2000","journal-title":"Am J Med Genet"},{"key":"2021121003555578200_B29"},{"key":"2021121003555578200_B30"},{"key":"2021121003555578200_B31","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1136\/jmg.30.9.779","article-title":"Nager acrofacial dysostosis.","volume":"30","author":"McDonald","year":"1993","journal-title":"J Med Genet"},{"key":"2021121003555578200_B32","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1002\/ajmg.1320150208","article-title":"Acrofacial dysostosis (Nager syndrome): synopsis and report of a new case.","volume":"15","author":"Pfeiffer","year":"1983","journal-title":"Am J Med Genet"},{"key":"2021121003555578200_B33","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1002\/ajmg.1320140203","article-title":"Differential diagnosis of Nager acrofacial dysostosis syndrome: report of four patients with Nager syndrome and discussion of other related syndromes.","volume":"14","author":"Halal","year":"1983","journal-title":"Am J Med Genet"},{"key":"2021121003555578200_B34","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1002\/ajmg.1320170314","article-title":"Acrofacial dysostosis with severe facial clefting and limb reduction.","volume":"17","author":"Kawira","year":"1984","journal-title":"Am J Med Genet"},{"key":"2021121003555578200_B35","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1136\/jmg.28.10.695","article-title":"Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype.","volume":"28","author":"Ogilvy-Stuart","year":"1992","journal-title":"J Med Genet"},{"key":"2021121003555578200_B36","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1016\/S0022-3476(46)80241-5","article-title":"Bilateral renal agenesis.","volume":"29","author":"Potter","year":"1946","journal-title":"J Pediatr"},{"key":"2021121003555578200_B37","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1002\/(SICI)1097-0177(199812)213:4<486::AID-AJA13>3.0.CO;2-L","article-title":"EYA1 expression in the developing ear and kidney: towards the understanding of the pathogenesis of branchio-oto-renal (BOR) syndrome.","volume":"213","author":"Kalatzis","year":"1998","journal-title":"Dev Dyn"},{"key":"2021121003555578200_B38"},{"key":"2021121003555578200_B39"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/108\/2\/e32\/1164743\/e32.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/108\/2\/e32\/1164743\/e32.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,29]],"date-time":"2023-04-29T01:33:22Z","timestamp":1682732002000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/108\/2\/e32\/63765\/Syndromic-Ear-Anomalies-and-Renal-Ultrasounds"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,8,1]]},"references-count":39,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2001,8,1]]},"published-print":{"date-parts":[[2001,8,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.108.2.e32","relation":{},"ISSN":["1098-4275","0031-4005"],"issn-type":[{"value":"1098-4275","type":"electronic"},{"value":"0031-4005","type":"print"}],"subject":[],"published":{"date-parts":[[2001,8,1]]}}}