Prenatal sonographic patterns in six cases of Wolf-Hirschhorn (4p-) syndrome.
This multicentric study presents 6 cases of Wolf-Hirschhorn syndrome (deletion of 4p) detected after a sonographic prenatal diagnosis of early intrauterine growth retardation with fetal abnormalities. Standard karyotyping on regular G-banding during pregnancy was normal in half of the cases. Fortunately, the associated sonographic signs of a typical face, cystic cerebral lesions, midline fusion defects and bilateral renal hypoplasia may help to refine specific indications for high-resolution banding and molecular analysis by in situ hybridization.
Boog
Georges
G
Department of Obstetrics and Fetal Medicine, Pavillon Mère et Enfant, Centre Hospitalier et Universitaire de Nantes, Nantes, France. georges.boog@chu-nantes.fr
Le Vaillant
Claudine
C
Collet
Michel
M
Dupré
Pierre François
PF
Parent
Philippe
P
Bongain
André
A
Benoit
Bernard
B
Trastour
Claire
C
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics*; D000328:Adult; D001921:Brain / Q000002:abnormalities; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities / Q000000981:diagnostic imaging; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal