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Waardenburg Syndrome Type I with Heterochromia Iridis and Circumscribed Hypopigmentation of the Skin |
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| Authors: | SIBYLLE EIGELSHOVEN M.D. GITTA KAMEDA M.D. ANNE‐KATRIN KORTÜM M.D. SIMONE HÜBSCH M.D. WOLFGANG ANGERSTEIN M.D. PREETI SINGH M.D. RENATE VÖHRINGER M.D. TIMM GOECKE M.D. ERTAN MAYATEPEK M.D. THOMAS RUZICKA M.D. GABRIELE WILDHARDT Ph.D. THOMAS MEISSNER M.D. ROLAND KRUSE M.D. |
| Affiliation: | 1. Department of Dermatology, Heinrich‐Heine‐University, Düsseldorf, Germany;2. Department of General Pediatrics, University Children’s Hospital, Heinrich‐Heine‐University, Düsseldorf, Germany;3. Department of Ophthalmology, Heinrich‐Heine‐University, Düsseldorf, Germany;4. Department of Pedaudiology, Heinrich‐Heine‐University, Düsseldorf, Germany;5. Department of Operative and Preventive Dentistry and Endodontics, Heinrich‐Heine‐University, Düsseldorf, Germany;6. Pediatric Practice Schlenker/V?hringer, Düsseldorf, Germany;7. Institute of Human Genetics, Heinrich‐Heine‐University, Düsseldorf, Germany;8. Department of Dermatology, Ludwig‐Maximilians University, Munich, Germany;9. Bioscientia Center for Human Genetics, Ingelheim am Rhein, Germany |
| Abstract: | Abstract: We report a 3‐year‐old girl with autosomal dominant inherited Waardenburg syndrome type I showing circumscribed hypopigmentation of the skin, heterochromia iridis, sensorineural deafness, and dental aberrations. Clinical diagnosis was confirmed by the identification of an underlying missense mutation (C811T) in the PAX3 gene. Early diagnosis of Waardenburg syndrome among children with pigment anomalies enables a successful interdisciplinary medical care. |
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