Document Detail

Neonatal Williams syndrome presenting as an isolated supravalvular pulmonary stenosis.
MedLine Citation:
PMID:  12946215     Owner:  NLM     Status:  MEDLINE    
An infant with normal facies and none of the extracardiac anomalies usually associated with Williams syndrome presented at birth with an echocardiographic pattern of supravalvular pulmonary stenosis and displastic pulmonary valve. A clinical reappraisal was planned at 3 months of age, but the girl died suddenly at home at 2 months of age. At autopsy, both ventricles were hypertrophic, and the valves showed mild dysplasia. The walls of the great arteries were thick, with a "washed leather" consistency, but there was no gross evidence of discrete stenosis. The histologic mosaic appearance of the media of the great arteries, due to elastosis and extreme disarray of the elastic lamellae, prompted a postmortem diagnosis of supravalvar aortic stenosis and suggested a diagnosis of Williams syndrome, which was subsequently confirmed by fluorescence in situ hybridization. Pediatricians and pathologists should be alerted that Williams syndrome in the newborn may present as an isolated supravalvular pulmonary stenosis, whereas supravalvular aortic stenosis becomes clinically significant only a few months later.
Cira R T di Gioia; Costantino Ciallella; Giulia d'Amati; Eleonora Parroni; Anna Maria Nardone; Pietro Gallo
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Archives of pathology & laboratory medicine     Volume:  127     ISSN:  1543-2165     ISO Abbreviation:  Arch. Pathol. Lab. Med.     Publication Date:  2003 Sep 
Date Detail:
Created Date:  2003-08-29     Completed Date:  2003-10-20     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7607091     Medline TA:  Arch Pathol Lab Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  e367-70     Citation Subset:  AIM; IM    
Department of Experimental Medicine and Pathology, University La Sapienza, Rome, Italy.
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MeSH Terms
Aortic Stenosis, Supravalvular / etiology,  pathology
Chromosome Deletion
Chromosomes, Human, Pair 7 / genetics
Diagnosis, Differential
Fatal Outcome
In Situ Hybridization, Fluorescence
Infant, Newborn
Pulmonary Valve Stenosis / etiology*,  pathology
Williams Syndrome / complications*,  genetics,  pathology

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