Document Detail


Characteristic phenotype in congenital nephrotic syndrome.
MedLine Citation:
PMID:  7758527     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We present three children with congenital nephrotic syndrome and previously undescribed facial features. These include: (1) small mouth (intercommissural distance < 3rd percentile); (2) tented upper lip; (3) small nose (interalar distance -2 SD below mean); (4) fullness of cheeks giving a 'jowly' appearance; (5) overhanging outer thirds of upper eyelids. These features may reflect prolonged tissue oedema and protein malnutrition in utero and early life. CONCLUSION Characteristic facial features in congenital nephrotic syndrome may reflect intra-uterine malnutrition.
Authors:
T G Barrett; C M Taylor; D V Milford
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  European journal of pediatrics     Volume:  154     ISSN:  0340-6199     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  1995 Mar 
Date Detail:
Created Date:  1995-06-26     Completed Date:  1995-06-26     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  239-40     Citation Subset:  IM    
Affiliation:
Children's Hospital, Ladywood Middleway, Birmingham, UK.
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MeSH Terms
Descriptor/Qualifier:
Facial Expression*
Female
Humans
Infant
Male
Nephrotic Syndrome / congenital*
Phenotype

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