Cranio-cerebello-cardiac (3C) syndrome: follow-up study of the original patient

In 1987, Ritscher et al. described two sisters with brain malformations of the posterior fossa, congenital heart defects, and similar craniofacial dysmorphisms. Subsequently, more than 20 cases have been reported and the syndrome became known as 3C (cranio-cerebello-cardiac) or Ritscher-Schinzel syndrome. The majority of patients were younger than six years of age at the time of observation. Here we present a follow-up study of one of the two sisters described by Ritscher et al. in 1987. At 21 years of age she is the oldest patient reported to date. We delineate growth, intellectual development, and evolution of her congenital developmental defects. We also provide evidence that the originally reported immune deficiency in this patient is not a primary B-cell defect but a secondary loss of IgG via the gastrointestinal system.