Document Detail


The 3C syndrome: evolution of the phenotype and growth hormone deficiency.
MedLine Citation:
PMID:  10528249     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The 3C syndrome (cranio-cerebello-cardiac dysplasia or the Ritscher-Schinzel syndrome) is a recently delineated condition involving abnormalities of the cranium (large head with prominent forehead), cerebellum (Dandy-Walker cyst and vermis hypoplasia), and cardiac (primarily septal) defects. At least 20 individuals with this condition have been reported in the past 11 years. We report on a girl with the 3C syndrome who at 13 years of age is the oldest patient reported to date. She has been followed since birth, allowing us to show the evolution of her phenotype over time. In addition, she has documented growth hormone deficiency. We suggest that growth hormone deficiency should be considered as a possible cause of the short stature often seen in this condition.
Authors:
P G Wheeler; A Sadeghi-Nejad; E R Elias
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  87     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1999 Nov 
Date Detail:
Created Date:  1999-12-01     Completed Date:  1999-12-01     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  61-4     Citation Subset:  IM    
Copyright Information:
Copyright 1999 Wiley-Liss, Inc.
Affiliation:
Department of Pediatrics, Tufts University School of Medicine, Floating Hospital for Children at New England Medical Center, Boston, Massachusetts 02111, USA. Patricia.Wheeler@es.nemc.org
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics,  pathology
Adolescent
Adult
Cerebellum / abnormalities*
Child
Child, Preschool
Craniofacial Abnormalities / genetics,  pathology*
Dandy-Walker Syndrome / genetics,  pathology
Female
Follow-Up Studies
Growth Disorders / drug therapy
Growth Hormone / deficiency,  therapeutic use
Heart Defects, Congenital / genetics,  pathology*
Humans
Infant
Phenotype
Syndrome
Chemical
Reg. No./Substance:
9002-72-6/Growth Hormone

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


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