Ultraschall Med 2008; 29 - S3_OP12
DOI: 10.1055/s-2008-1080795

Prenatal diagnosis of Wolf-Hirschhorn-syndrome (4p-)

EJ Visca 1, P Miny 2, A Kang 1, C Voekt 1, S Tercanli 1, W Holzgreve 1
  • 1University Hospital Basel, Dept. of Obstetrics and Gynecology, Basel, Switzerland
  • 2University Children's Hospital, Division of Medical Genetics, Basel, Switzerland

Introduction: Prenatal diagnosis of Wolf-Hirschhorn-syndrome (WHS) is complex as 4p deletion might not be recognized on standard karyotyping. Falsely euploid results are described with diagnosis depending on subsequent testing once sonographic fetal anomalies occurred. WHS may present with intrauterine growth restriction (IUGR), craniofacial anomalies, cardiac, renal, and skeletal malformations. Prognosis is dismal due to mental retardation, neurologic deficiencies, generalized hypotonia, seizures, and increased mortality.

Case report: A 25-year-old G 3 P 3 was referred at 21 weeks of gestation because of suspicious biochemical screening results (fβ-HCG 0.21 MoM, PAPP-A 0.54 MoM). Ultrasound (US) examination revealed IUGR, unilateral club foot, and flat profile. Prominent glabella and „Greek warrior helmet“ appearance was visualized on 3D-US. Amniocentesis proved 4p deletion based on GTG-banding and FISH. The parents opted for termination of pregnancy.

Conclusion: WHS is a relevant differential diagnosis of unexplained IUGR requiring targeted US examination. 3D-US offered visualization of facial dysmorphism. Sonographic anomalies may be subtle or unspecific. High-resolution banding and molecular analysis will assure correct diagnosis of submicroscopic 4p deletion.

3D ultrasound - Wolf-Hirschhorn-syndrome - facial dysmorphism - prenatal diagnosis