| Orofaciodigital syndrome. | |
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MedLine Citation:
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PMID: 22278878 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Orofaciodigital syndrome is a very rare entity with X-linked dominant inheritance characterized by oral, facial, and digital anomalies. Thirteen different types have been described in the literature to date. Of these, orofaciodigital syndrome type I has the highest incidence. Renal and central nervous system malformations may accompany the oral, facial, and digital anomalies. We report a case of orofaciodigital syndrome type I in a 9-year-old girl. The patient was admitted with a complaint unrelated to the syndrome. The coexistence of an oral anomaly with a digital anomaly in this patient led us to search for other possible anomalies. Ultrasonography revealed a diagnosis of polycystic kidneys. Physicians must be mindful of the external appearance of patients with this syndrome and be aware of life-threatening anomalies possibly associated with it. |
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Authors:
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Baris Naiboglu; Cagatay Oysu; Tanju Gokceer |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Ear, nose, & throat journal Volume: 91 ISSN: 1942-7522 ISO Abbreviation: Ear Nose Throat J Publication Date: 2012 Jan |
Date Detail:
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Created Date: 2012-01-26 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7701817 Medline TA: Ear Nose Throat J Country: United States |
Other Details:
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Languages: eng Pagination: E8-9 Citation Subset: IM |
Affiliation:
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Department of Otorhinolaryngology Head and Neck Surgery, Haydarpasa Numune Education and Research Hospital, Acıbadem Necipbey sokak No 28, C/4 Kadikoy, İstanbul, Turkey. drbnaib@yahoo.com. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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