Document Detail


Nephrotic syndrome, microcephaly, and developmental delay: three separate syndromes.
MedLine Citation:
PMID:  10215551     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe a patient with microcephaly, developmental delay, and nephrotic syndrome who had normal renal function and normal brain imaging studies. She does not have the Galloway-Mowat syndrome. The concurrence of nephrotic syndrome with microcephaly and developmental delay may be coincidental, or may reflect one of at least three syndromes: Galloway-Mowat, a second syndrome of microcephaly, nephrotic syndrome and developmental delay (MNSDD), and a third syndrome of microcephaly, developmental delay, and spondylorhizomelic short stature.
Authors:
K E Meyers; P Kaplan; B S Kaplan
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  82     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1999 Jan 
Date Detail:
Created Date:  1999-04-22     Completed Date:  1999-04-22     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:  257-60     Citation Subset:  IM    
Affiliation:
Division of Nephrology, Children's Hospital of Philadelphia and the University of Pennsylvania 19104, USA.
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MeSH Terms
Descriptor/Qualifier:
Developmental Disabilities / complications*
Diagnosis, Differential
Female
Humans
Infant
Microcephaly / complications*
Nephrotic Syndrome / complications*
Syndrome

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