| Gastrointestinal and renal abnormalities in cardio-facio-cutaneous syndrome. | |
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MedLine Citation:
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PMID: 15490149 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Cardio-facio-cutaneous syndrome (CFC) is an uncommon autosomal recessive condition recently distinguished from Noonan syndrome but with more marked growth failure and ectodermal dysplasia. Abdominal symptoms are frequently described but anatomic lesions in CFC have rarely been described. We have found significant anatomic abnormalities in CFC patients including antral foveolar hyperplasia, severe constipation with fecal impaction, nephrocalcinosis and renal cysts. |
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Authors:
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Thomas E Herman; William H McAlister |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2004-10-15 |
Journal Detail:
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Title: Pediatric radiology Volume: 35 ISSN: 0301-0449 ISO Abbreviation: Pediatr Radiol Publication Date: 2005 Feb |
Date Detail:
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Created Date: 2005-03-17 Completed Date: 2005-07-14 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0365332 Medline TA: Pediatr Radiol Country: Germany |
Other Details:
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Languages: eng Pagination: 202-5 Citation Subset: IM |
Affiliation:
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St. Louis Children's Hospital, Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 S. Kingshighway Blvd., St. Louis, MO 63110, USA. herman@mir.wustl.edu |
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis* Adolescent Calcium / urine Cysts / congenital, diagnosis* Ectodermal Dysplasia / diagnosis Facial Bones / abnormalities Fecal Impaction / diagnosis Female Gastrointestinal Tract / abnormalities* Heart Defects, Congenital / diagnosis Humans Kidney Diseases / congenital, diagnosis* Male Mental Retardation / diagnosis Syndrome Urinary Bladder / abnormalities* Urinary Calculi / diagnosis |
| Chemical | |
Reg. No./Substance:
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7440-70-2/Calcium |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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