Document Detail

Gastrointestinal and renal abnormalities in cardio-facio-cutaneous syndrome.
MedLine Citation:
PMID:  15490149     Owner:  NLM     Status:  MEDLINE    
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.
Thomas E Herman; William H McAlister
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2004-10-15
Journal Detail:
Title:  Pediatric radiology     Volume:  35     ISSN:  0301-0449     ISO Abbreviation:  Pediatr Radiol     Publication Date:  2005 Feb 
Date Detail:
Created Date:  2005-03-17     Completed Date:  2005-07-14     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0365332     Medline TA:  Pediatr Radiol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  202-5     Citation Subset:  IM    
St. Louis Children's Hospital, Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 S. Kingshighway Blvd., St. Louis, MO 63110, USA.
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MeSH Terms
Abnormalities, Multiple / diagnosis*
Calcium / urine
Cysts / congenital,  diagnosis*
Ectodermal Dysplasia / diagnosis
Facial Bones / abnormalities
Fecal Impaction / diagnosis
Gastrointestinal Tract / abnormalities*
Heart Defects, Congenital / diagnosis
Kidney Diseases / congenital,  diagnosis*
Mental Retardation / diagnosis
Urinary Bladder / abnormalities*
Urinary Calculi / diagnosis
Reg. No./Substance:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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