Document Detail


A new case of MOMO syndrome.
MedLine Citation:
PMID:  19996736     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
MOMO syndrome, a condition described in three earlier patients, is a constellation of macrosomia, obesity, macrocephaly, and ocular abnormalities as the main findings. We report a 6-year-old child with these findings as well as significant developmental issues, delayed bone age, clavicular pseudoarthrosis, and straight femurs. We believe that this child should be considered as having MOMO syndrome. Careful consideration of his facial features shows some overlap with Kabuki syndrome. Description of this case may help to better elucidate the clinical features of MOMO syndrome.
Authors:
Robert Wallerstein; Rachel D Sugalski
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Clinical dysmorphology     Volume:  19     ISSN:  1473-5717     ISO Abbreviation:  Clin. Dysmorphol.     Publication Date:  2010 Jan 
Date Detail:
Created Date:  2009-12-16     Completed Date:  2010-02-22     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9207893     Medline TA:  Clin Dysmorphol     Country:  England    
Other Details:
Languages:  eng     Pagination:  1-4     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, Genetics Service, Joseph M. Sanzari Children's Hospital, Hackensack, University Medical Center, Hackensack, New Jersey, USA. robert.wallerstein@hhs sccgov.org
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / pathology*
Age Determination by Skeleton
Child
Developmental Disabilities / pathology
Diagnosis, Differential
Eye Abnormalities / pathology
Facies
Femur / abnormalities
Humans
Mental Retardation / pathology
Obesity / pathology
Syndrome

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


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