Congenital malformation syndrome

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

Topic mentions per year

Topic mentions per year

1962-2018
051019622018

Papers overview

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2013
2013
Meckel–Gruber syndrome (MKS, OMIM #249000) is a multiple congenital malformation syndrome that represents the severe end of the… (More)
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Highly Cited
2012
Highly Cited
2012
The exon-junction complex (EJC) performs essential RNA processing tasks. Here, we describe the first human disorder… (More)
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2002
2002
The thrombocytopenia-absent radius (TAR) syndrome is a congenital malformation syndrome characterised by bilateral absence of the… (More)
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2001
2001
Velo-cardio-facial syndrome (VCFS) is a congenital malformation syndrome with variable phenotypic features that has been… (More)
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2000
2000
A case is given of a male born with a duplication of the left leg and ipsilateral kidney agenesis. Although the etiology is… (More)
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1994
1994
We report on two cases of 3C (cranio-cerebello-cardiac) syndrome. At least five previous cases are known. This recently… (More)
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1990
1990
The popliteal pterygium syndrome is a highly characteristic congenital malformation syndrome affecting the face, limbs, and… (More)
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1984
1984
The velo -cardio-facial syndrome is a recently delineated congenital malformation syndrome, probably of autosomal dominant… (More)
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Highly Cited
1981
Highly Cited
1981
Thirty-nine patients with the velo-cardio-facial syndrome are described in order to further delineate this probably common… (More)
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Highly Cited
1978
Highly Cited
1978
This report describes a pattern of similarities among 12 patients which are felt to represent a newly recognized congenital… (More)
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