Download PDF
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
Further Information

Publication History

Publication Date:
24 February 2005 (online)

Also available at
    Permissions and Reprints

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.

KEYWORDS

Prenatal diagnosis - Wolf-Hirschhorn syndrome - three-dimensional ultrasonography

REFERENCES

  • 1 Goodman R, Gorlin R. The Malformed Infant and Child. New York; Oxford University Press 1983
    Search in Google Scholar
  • 2 Hirschhorn K, Cooper H L. Apparent deletion of short arms of one chromosome (4 or 5) in a child with defects of midline fusion.  Hum Chrom Newsl. 1961;  4 14-16
    PubMedSearch in Google Scholar
  • 3 Wolf U, Reinwein H, Porsch R, Schroter R, Baitsch H. Deficiency on the short arms of a chromosome no. 4.  Humangenetik. 1965;  1 397-413
    PubMedSearch in Google Scholar
  • 4 Lurie I W, Lazjuk G L, Ussova I, Presman E B, Gurevich D B. The Wolf-Hirschhorn syndrome. I. Genetics.  Clin Genet. 1980;  17 375-384
    PubMedSearch in Google Scholar
  • 5 Tachdjian G, Fondacci C, Tapia S, Huten Y, Blot P, Nessmann C. The Wolf-Hirschhorn syndrome in fetuses.  Clin Genet. 1992;  42 281-287
    PubMedSearch in Google Scholar
  • 6 Verloes A, Schaaps J P, Herens C, Soyeur D, Hustin C, Dodinval P. Prenatal diagnosis of cystic hygroma and chorioangioma in the Wolf-Hirschhorn syndrome.  Prenat Diagn. 1991;  11 129-132
    PubMedSearch in Google Scholar
  • 7 Chen A TL, Chan Y K, Falek A. The effects of chromosomal abnormalities on birth weight in man.  Hum Hered. 1972;  22 209-224
    PubMedSearch in Google Scholar
  • 8 Reisman I E. Chromosomal abnormalities and intrauterine growth retardation.  Pediatr Clin North Am. 1970;  17 101-110
    PubMedSearch in Google Scholar
  • 9 Khoury M, Erikson J, Cordero J, McCartney B. Congenital malformations and intrauterine growth retardation: a population study.  Pediatrics. 1988;  82 83-90
    PubMedSearch in Google Scholar
  • 10 Ounsted M, Moar V, Scott A. Perinatal morbidity and mortality in small of dates babies: relative importance of some maternal factors.  Early Hum Dev. 1981;  5 367-375
    CrossrefPubMedSearch in Google Scholar
  • 11 Snijders R JM, Sherrod C, Gosden C M, Nicolaides K H. Fetal growth retardation: associated malformations and chromosomal abnormalities.  Am J Obstet Gynecol. 1993;  168 547-555
    CrossrefPubMedSearch in Google Scholar
  • 12 Xu H X, Zhang Q P, Lu M D, Xiao X T. Comparison of two-dimensional and three-dimensional sonography in evaluating fetal malformations.  J Clin Ultrasound. 2002;  30 515-525
    CrossrefPubMedSearch in Google Scholar
  • 13 Chmait R, Pretorius D, Jones M et al.. Prenatal evaluation of facial clefts with two-dimensional and adjunctive three-dimensional ultrasonography: a prospective trial.  Am J Obstet Gynecol. 2002;  187 946-949
    CrossrefPubMedSearch in Google Scholar
  • 14 Shipp T D, Mulliken J B, Bromley B, Benacerraf B. Three-dimensional prenatal diagnosis of frontal malformation and unilateral cleft lip/palate.  Ultrasound Obstet Gynecol. 2002;  20 290-293
    PubMedSearch in Google Scholar
  • 15 Bongain A, Benoit B, Ejnes L, Lambert J C, Gillet J Y. Harlequin fetus: three-dimensional sonographic findings and new diagnostic approach.  Ultrasound Obstet Gynecol. 2002;  20 82-85
    PubMedSearch in Google Scholar

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