Increased nuchal translucency thickness: a potential indicator for Ritscher-Schinzel syndrome.

Abstract

OBJECTIVE:

The Ritscher-Schinzel syndrome (RSS), also known as the 3C syndrome, is an autosomal recessive disorder classically comprising craniofacial, cerebellar and cardiac defects. The underlying molecular etiology remains unknown; therefore, prenatal diagnosis of recurrences depends on identification of the associated structural anomalies on second trimester ultrasound examination. Identification of recurrences using first-trimester ultrasound has not been reported previously.

METHODS:

Two women who presented at our center with fetal nuchal abnormalities on first trimester ultrasound went on to have children with RSS. One of the women had also undergone a previous pregnancy termination for fetal anomalies consistent with RSS. The ultrasound findings and details of these 3 cases were reviewed.

RESULTS:

Both cases of RSS and the third suspected case were found to have nuchal abnormalities on first-trimester scan. All went on to develop malformations consistent with RSS detectable on second-trimester ultrasound. The later 2 cases continued to term and the children had facial characteristics consistent with RSS.

CONCLUSION:

First-trimester ultrasound assessment of nuchal translucency could be considered as a method for identifying sib recurrences of RSS. In addition, RSS should be on the differential diagnosis when increased nuchal translucency is seen on first-trimester scan.

• Authors: Alison J Rusnak, Marie I Hadfield, Albert E Chudley, Sandra L Marles, Gregory J Reid, Bernard N Chodirker
• Journal: Fetal diagnosis and therapy (Fetal Diagn Ther) Vol. 24 Issue 4 Pg. 395-9 ( 2008) ISSN: 1421-9964 [Electronic] Switzerland
• PMID: 18957854 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2008 S. Karger AG, Basel.

Topics

• Abnormalities, Multiple (diagnostic imaging)
• Adolescent
• Cerebellum (abnormalities, diagnostic imaging)
• Craniofacial Abnormalities (diagnostic imaging)
• Dandy-Walker Syndrome (diagnostic imaging)
• Female
• Fourth Ventricle (abnormalities, diagnostic imaging)
• Gestational Age
• Heart Defects, Congenital (diagnostic imaging)
• Humans
• Infant, Newborn
• Nuchal Translucency Measurement
• Pregnancy
• Pregnancy Trimester, First
• Young Adult