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


Zankl, Andreas; Güngör, Tayfun; Schinzel, Albert (2003). Cranio-cerebello-cardiac (3C) syndrome: Follow-up study of the original patient. American Journal of Medical Genetics. Part A, 118A(1):55-59.

Abstract

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.

Abstract

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.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:610 Medicine & health
Scopus Subject Areas:Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Language:English
Date:2003
Deposited On:29 Mar 2022 08:42
Last Modified:23 May 2024 01:46
Publisher:Wiley-Blackwell Publishing, Inc.
ISSN:1552-4825
OA Status:Closed
Publisher DOI:https://doi.org/10.1002/ajmg.a.10233
PubMed ID:12605442