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Dandy-Walker malformation with postaxial polydactly: a new case of Pierquin syndrome.
Passalacqua, Cristóbal A; Villegas, Victor P; Aracena, Mariana I; Mellado, Cecilia X.
Clin Dysmorphol ; 22(2): 51-53, 2013 Apr.
Article in English | MEDLINE | ID: mdl-23324646

ABSTRACT

The combination of Dandy-Walker malformation, other central nervous system anomalies, and postaxial polydactyly has been reported previously in two pairs of siblings. We propose the name 'Pierquin syndrome' for this combination and we report a new patient with this disorder.


Subject(s)
Dandy-Walker Syndrome/genetics , Dandy-Walker Syndrome/pathology , Polydactyly/genetics , Polydactyly/pathology , Aortic Valve Stenosis/pathology , Brain/diagnostic imaging , Fatal Outcome , Female , Humans , Infant , Infant, Newborn , Megalencephaly/genetics , Megalencephaly/pathology , Pregnancy , Radiography , Ultrasonography, Prenatal
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