| Adipsic hypernatremia and bilateral renal stones in a child with ectrodactyly-ectodermal dysplasia-cleft lip-palate (EEC) syndrome. | |
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MedLine Citation:
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PMID: 20681222 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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EEC syndrome an autosomal dominant disorder with variable expression and cardinal signs of ectrodactyly, ectodermal dysplasia, and orofacial clefts. In this report, we describe a patient with EEC syndrome, adipsic hypernatremia without brain anomalies, and bilateral renal stones, two manifestations that were not reported before. |
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Authors:
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R M Shawky; S M Elsayed; D I Sadik; S Gad; N S Seifeldin |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Genetic counseling (Geneva, Switzerland) Volume: 21 ISSN: 1015-8146 ISO Abbreviation: Genet. Couns. Publication Date: 2010 |
Date Detail:
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Created Date: 2010-08-04 Completed Date: 2010-09-03 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9015261 Medline TA: Genet Couns Country: Switzerland |
Other Details:
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Languages: eng Pagination: 215-20 Citation Subset: IM |
Affiliation:
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Pediatrics Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt. shawkyrabah@yahoo.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple* Cleft Lip* Cleft Palate* Ectodermal Dysplasia* Humans Hypernatremia* Infant Kidney Calculi Male Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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