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Case Report | Radiology and Medical Imaging Sciences | Volume 15 Issue 6, June 2026 | Pages: 536 - 539 | India
Not Just a Posterior Fossa Abnormality: Imaging Diagnosis of Ritscher - Schinzel Syndrome
Abstract: This report describes an antenatal case of Ritscher?Schinzel syndrome (cranio-cerebello-cardiac syndrome) diagnosed through characteristic imaging findings and supported by molecular findings. Prenatal ultrasonography demonstrated Dandy?Walker malformation with cerebellar vermian hypoplasia, cystic dilatation of the fourth ventricle, posterior fossa enlargement, and splaying of the cerebellar hemispheres, along with a choroid plexus cyst. Fetal echocardiography revealed a perimembranous ventricular septal defect, while thoracoabdominal assessment demonstrated congenital diaphragmatic hernia with herniation of abdominal contents into the thoracic cavity. Owing to extensive multisystem involvement and poor prognosis, pregnancy termination was performed. Post-abortion examination showed craniofacial dysmorphism with a prominent occiput. Genetic analysis identified a homozygous variant of uncertain significance in COMMD4, a gene recently implicated in Ritscher?Schinzel syndrome. The molecular findings, together with the characteristic antenatal imaging phenotype and parental carrier status, provided supportive evidence for the diagnosis. Correlation of antenatal imaging, postmortem findings, and molecular testing supported the diagnosis of Ritscher?Schinzel syndrome. This case highlights the importance of systematic prenatal imaging and broadens the recognised antenatal imaging phenotype of this rare syndrome.
Keywords: Ritscher-Schinzel syndrome, 3C syndrome, prenatal diagnosis, Dandy?Walker malformation, congenital diaphragmatic hernia, ventricular septal defect, fetal echocardiography, COMMD4 gene.
How to Cite?: Dr. Vishnupriya, Dr. Saketh Reddy, Dr. Ramakrishna Rao Baru, "Not Just a Posterior Fossa Abnormality: Imaging Diagnosis of Ritscher - Schinzel Syndrome", Volume 15 Issue 6, June 2026, International Journal of Science and Research (IJSR), Pages: 536-539, https://www.ijsr.net/getabstract.php?paperid=MR26605222954, DOI: https://dx.dx.doi.org/10.21275/MR26605222954