Am J Perinatol 2005; 22(2): 99-102
DOI: 10.1055/s-2005-837275
Copyright © 2005 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA.

Ultrasonographic Findings of Facial Dysmorphism in Wolf-Hirschhorn Syndrome

Masakatsu Sase1 , Keiko Hasegawa1 , Rie Honda1 , Masahiro Sumie1 , Masahiko Nakata1 , Norihiro Sugino2 , Susumu Furukawa1
  • 1Division of Medicine for Maternal and Child Health, Department of Reproductive, Pediatric, and Infection Science, Yamaguchi University School of Medicine, Yamaguchi, Japan
  • 2Division of Medicine for Women's Health, Department of Reproductive, Pediatric, and Infection Science, Yamaguchi University School of Medicine, Yamaguchi, Japan
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Publication History

Publication Date:
24 February 2005 (online)

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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.

REFERENCES

Masakatsu SaseM.D. 

Department of Reproductive, Pediatric, and Infection Science, Yamaguchi University School of Medicine

1-1-1 Minami-Kogushi Ube, Yamaguchi 755-8505, Japan