| Genitopatellar syndrome, sensorineural hearing loss, and cleft palate. | |
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MedLine Citation:
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PMID: 20182757 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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INTRODUCTION: Genitopatellar syndrome is characterized by absent/hypoplastic patellae, genital and renal abnormalities, dysmorphic facial features, and mental retardation. Cardiac anomalies, ectodermal dysplasia, and radio-ulnar synostosis have been suggested as additional features. DISCUSSION: We report on additional female patient with sensorineural hearing loss, cleft palate, and hypothyroidism in addition to known anomalies. Findings are discussed based on a literature review of the known patients with the genitopatellar syndrome. |
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Authors:
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Corinna Bergmann; Susanne Spranger; Poupak Javaher; Martin Ptok |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Oral and maxillofacial surgery Volume: 15 ISSN: 1865-1569 ISO Abbreviation: Oral Maxillofac Surg Publication Date: 2011 Jun |
Date Detail:
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Created Date: 2011-05-23 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101319632 Medline TA: Oral Maxillofac Surg Country: Germany |
Other Details:
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Languages: eng Pagination: 103-6 Citation Subset: D; IM |
Affiliation:
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Department of Phoniatrics and Pedaudiology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany, bergmann.corinna@mh-hannover.de. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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