3C syndrome with cryptorchidism and posterior embryotoxon.
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.
Papadopoulou
Eleftheria
E
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.
Sifakis
Stavros
S
Rogalidou
Maria
M
Makrigiannakis
Antonios
A
Giannakopoulou
Christina
C
Petersen
Michael B
MB
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