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Title: Prenatal diagnosis of 4p deletion with aortic valve stenosis
Authors: Witters, Ingrid ×
Gyselaers, Wilfried
Van Holsbeke, Caroline
Mesens, Tinne
Theyskens, Claire
Duvivier, Patricia
Fryns, Jean-Pierre #
Issue Date: May-2010
Publisher: Maney Publishing
Series Title: Ultrasound vol:18 issue:2 pages:89-91
Abstract: Wolf-Hirschhorn syndrome (WHS) is caused by variable sized terminal deletions of the short arm of chromosome 4 (chromosomal region 4p16.3) and usually presents as severe intrauterine growth retardation with characteristic dysmorphic features (hypertelorism, a short philtrum with downturned corners of the mouth and a ‘Greek warrior helmet appearance’ of the face), developmental delay and epilepsy.

Often WHS is only diagnosed postnatally but prenatal diagnosis has been reported in the presence of intrauterine growth retardation with facial dysmorphism, cardiac malformations (ventricular septal defect, arrhythmia) or other associated malformations (oesophageal atresia, renal hypoplasia, diaphragmatic hernia, foot deformity, choroid plexus cysts, corpus callosumagenesis, hypospadias), or in the present of a parental balanced translocation.

Here we present the prenatal diagnosis of WHS based on the prenatal onset of growth delay and characteristic facial features and aortic valve stenosis.
ISSN: 1742-271X
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Clinical Genetics
× corresponding author
# (joint) last author

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