title: Facial asymmetry, cardio-vascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome?
abstract: The authors report a young girl with Dubowitz syndrome associated with Tetralogy of Fallot, facial asymmetry and fixed adducted thumbs. At least 80 cases of Dubowitz syndrome have been reported in the literature. Among these patients only 11 have a cardiovascular malformation. Facial asymmetry and adducted thumbs have been noticed in one previously reported patient. They suggest that these findings may be regarded as uncommon manifestations of the syndrome.
authors.affiliation: Center for Human Genetics, University of Leuven, Belgium.
authors.forename: A
authors.initials: A
authors.lastname: Vogels
authors.forename: M E
authors.initials: ME
authors.lastname: Lorenzetti
authors.forename: P
authors.initials: P
authors.lastname: Gillis
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D005146:Facial Asymmetry / Q000235:genetics*; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome; D013771:Tetralogy of Fallot / Q000235:genetics*; D013933:Thumb / Q000002:abnormalities*