Prenatal diagnosis of cri du chat syndrome with encephalocele.
A 19-year-old primigravida was found to have an encephalocele on screening ultrasound study. Amniocentesis indicated cri du chat syndrome, 5p-. Although cri du chat syndrome has been noted in association with central nervous system malformations, encephalocele is a rare finding in this syndrome.
Bakkum
Jamie N
JN
Maternal Fetal Medicine Division, Department of Obstetrics and Gynecology, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA.
Watson
William J
WJ
Johansen
Keith L
KL
Brost
Brian C
BC
D000328:Adult; D000649:Amniocentesis; D003410:Cri-du-Chat Syndrome / Q000150:complications / Q000175:diagnosis*; D004677:Encephalocele / Q000150:complications / Q000175:diagnosis*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis