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Congenital malformation syndrome

A syndrome characterized by the presence of congenital abnormalities that affect more than one organ or system.
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2018
Review
2018
Klippel-Trenaunay-Weber syndrome (KTWS) is a congenital malformation syndrome involving blood and lymph vessels and disturbed… 
Review
2016
Review
2016
Note: This article was posted on the Archives Web site as an Early Online Release. Early Online Release articles have been peer… 
2015
2015
Cantrell’s Pentalogy is a rare syndrome that features five characteristics that are the following: Inferior Sternal Defect… 
2014
2014
Rubinstein–Taybi syndrome (RSTS) is a complex congenital malformation syndrome characterized by typical dysmorphic facial… 
2009
2009
K lippel-Trénaunay-Weber syndrome (KTWS) is a rare congenital malformation syndrome involving blood and lymphatic vessels as well… 
2009
2009
SUMMARY Apert syndrome is a congenital malformation syndrome which is associated with craniosynostosis, craniofacial anomalies… 
1994
1994
We present two Japanese siblings with a new congenital malformation syndrome. The patients, who are an older sister and a younger… 
1990
1990
The acrocallosal syndrome is a rare congenital malformation syndrome with the main findings: agenesis of the corpus callosum… 
1986
1986
Fèvre-Languepin syndrome is a rare congenital malformation syndrome characterized in particular by the presence of a labio… 
1978
1978
A unique case of a prepubertal XX male with profound mental and physical retardation, retinitis pigmentosa, ambiguous genitalia…