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3C syndrome with cryptorchidism and posterior embryotoxon
Eleftheria Papadopoulou1, Stavros Sifakis, Maria Rogalidou
1Department of Pediatrics Department of Obstetrics and Gynaecology Department of Neonatology, University of Crete, Heraklion, Greece Department of Genetics, Institute of Child Health, 'Aghia Sophia' Children's Hospital, Athens, Greece.
Abstract:
We report a case of the 3C (cranio-cerebello-cardiac) syndrome, also known as Ritscher-Schinzel syndrome, a rare autosomal recessive disorder characterized by craniofacial, cerebellar, and cardiac anomalies. In addition to features previously reported the child had Wormian bones of the skull, intra-abdominal testes, and posterior embryotoxon that have not previously been reported as part of the 3C syndrome.