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


CONCLUSIONS
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.
Rusnak
Alison J
AJ
Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Man., Canada.
Hadfield
Marie I
MI
Chudley
Albert E
AE
Marles
Sandra L
SL
Reid
Gregory J
GJ
Chodirker
Bernard N
BN
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000293:Adolescent; D002531:Cerebellum / Q000002:abnormalities / Q000000981:diagnostic imaging; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging*; D003616:Dandy-Walker Syndrome / Q000000981:diagnostic imaging*; D005260:Female; D020546:Fourth Ventricle / Q000002:abnormalities / Q000000981:diagnostic imaging; D005865:Gestational Age; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging*; D006801:Humans; D007231:Infant, Newborn; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D055815:Young Adult