Ultrasonographic findings of facial dysmorphism in Wolf-Hirschhorn syndrome.
Am J Perinatol
; 22(2): 99-102, 2005 Feb.
Article
em En
| MEDLINE
| ID: mdl-15731989
ABSTRACT
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.
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Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Ultrassonografia Pré-Natal
/
Anormalidades Craniofaciais
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adult
/
Female
/
Humans
/
Newborn
/
Pregnancy
Idioma:
En
Ano de publicação:
2005
Tipo de documento:
Article