Document Detail


Hypothalamic dysfunction with polydactyly and hypoplastic nails.
MedLine Citation:
PMID:  10522347     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Attention to a careful diagnostic work-up should be given to patients with postaxial polydactyly or apparently isolated hypothalamic hamartomas. Early recognition of the condition is critical for management, particularly for anticipating and preventing endocrine emergencies. Conservative management of the hypothalamic hamartoma should be stressed. Finally, detailed genetic counseling should be provided to the family regarding autosomal-dominant inheritance as well as the wide range of interfamilial and intrafamilial variability.
Authors:
G B Schaefer; A H Olney
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Seminars in pediatric neurology     Volume:  6     ISSN:  1071-9091     ISO Abbreviation:  Semin Pediatr Neurol     Publication Date:  1999 Sep 
Date Detail:
Created Date:  2000-02-29     Completed Date:  2000-02-29     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9441351     Medline TA:  Semin Pediatr Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  238-42     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha 68198-5430, USA.
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MeSH Terms
Descriptor/Qualifier:
Brain Diseases / complications*,  diagnosis*
Child, Preschool
Female
Hamartoma / complications*,  diagnosis*
Humans
Hypothalamus / pathology,  physiopathology*
Infant, Newborn
Magnetic Resonance Imaging
Male
Nails, Malformed*
Polydactyly / complications*,  diagnosis

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


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