Papadopoulou Eleftheria, Sifakis Stavros, Rogalidou Maria, Makrigiannakis Antonios, Giannakopoulou Christina, Petersen Michael B
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.
Clin Dysmorphol. 2005 Apr;14(2):97-100.
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.
我们报告一例3C(颅-小脑-心脏)综合征,也称为里切尔-申策尔综合征,这是一种罕见的常染色体隐性疾病,其特征为颅面、小脑和心脏异常。除了先前报道的特征外,该患儿还有颅骨缝间骨、腹腔内睾丸和后胚胎环,这些以前未被报道为3C综合征的一部分。