Ultrasonographic findings of facial dysmorphism in Wolf-Hirschhorn syndrome.
Wolf-Hirschhorn syndrome has characteristic craniofacial dysmorphism with severe fetal growth restriction. We present a case that revealed facial dysmorphism characteristic of Wolf-Hirschhorn syndrome with two- and three-dimensional ultrasonography. The facial dysmorphic features in the present case were dolichocephaly; high forehead; large rectangular nose continuing to the eyebrows; hypertelorism; short philtrum; carp-shaped mouth; microretrognathia; and large, simply modeled, low-set ears. Chromosome analysis of amniotic fluid cells was 46,XX,del(4)(p15.2), confirming the ultrasonographic result. Examination with two- and three-dimensional ultrasonography is useful to observe the face of fetuses with severe intrauterine growth restriction to diagnose multiple congenital anomaly syndromes.
Sase
Masakatsu
M
Division of Medicine for Maternal and Child Health, Department of Reproductive, Pediatric, and Infection Science, Yamaguchi University School of Medicine, Yamaguchi, Japan.
Hasegawa
Keiko
K
Honda
Rie
R
Sumie
Masahiro
M
Nakata
Masahiko
M
Sugino
Norihiro
N
Furukawa
Susumu
S
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D000328:Adult; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging* / Q000235:genetics; D005145:Face / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal / Q000379:methods*