title: 3C syndrome with cryptorchidism and posterior embryotoxon.
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.
authors.affiliation: Department 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.
authors.forename: Eleftheria
authors.initials: E
authors.lastname: Papadopoulou
authors.forename: Stavros
authors.initials: S
authors.lastname: Sifakis
authors.forename: Maria
authors.initials: M
authors.lastname: Rogalidou
authors.forename: Antonios
authors.initials: A
authors.lastname: Makrigiannakis
authors.forename: Christina
authors.initials: C
authors.lastname: Giannakopoulou
authors.forename: Michael B
authors.initials: MB
authors.lastname: Petersen
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002490:Central Nervous System / Q000002:abnormalities*; D003315:Cornea / Q000002:abnormalities; D019465:Craniofacial Abnormalities / Q000473:pathology*; D003456:Cryptorchidism / Q000473:pathology*; D003616:Dandy-Walker Syndrome / Q000175:diagnosis / Q000473:pathology; D003937:Diagnosis, Differential; D006115:Greece; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D013577:Syndrome