Early ultrasonographic changes in Fowler syndrome features and review of the literature.

Abstract

BACKGROUND:

Fowler syndrome is characterized by hydranencephaly, brain stem and basal ganglion calcifications, a glomeruloid vasculopathy of the brain vessels, and a fetal akinesia deformation sequence with muscular hypoplasia. The natural progression of the ultrasonographic features of Fowler syndrome has never been described.

METHODS:

Case report and review of the literature.

RESULTS:

A primiparous woman with a negative ultrasound at 11 weeks of pregnancy was noted at 15 weeks to have fetal nuchal thickening, generalized skin edema, prominent lateral ventricles, akinesia with arthrogryposis, and pterygia. At 18 weeks, a cystic hygroma with facial edema, hypertelorism, and hydrocephaly were noted; the limb deformity was still evident. Within 1 week, the cystic hygroma regressed partially, but the hydrocephaly deteriorated.

CONCLUSION:

The multiple ultrasonographic features of Fowler syndrome may not occur simultaneously and their severity may vary with gestational age.

• Authors: Ihab M Usta, Antoine A AbuMusa, Nabil G Khoury, Anwar H Nassar
• Journal: Prenatal diagnosis (Prenat Diagn) Vol. 25 Issue 11 Pg. 1019-23 (Nov 2005) ISSN: 0197-3851 [Print] England
• PMID: 16231307 (Publication Type: Case Reports, Journal Article, Review)
• Copyright: Copyright 2005 John Wiley & Sons, Ltd.

Topics

• Abnormalities, Multiple (diagnostic imaging)
• Abortion, Eugenic
• Arthrogryposis (diagnostic imaging)
• Female
• Fetal Diseases (diagnostic imaging)
• Humans
• Hydranencephaly (diagnostic imaging)
• Limb Deformities, Congenital (diagnostic imaging)
• Nuchal Translucency Measurement
• Pregnancy
• Pregnancy Outcome
• Syndrome
• Ultrasonography, Prenatal