Atrioventricular canal and 3C (cranio-cerebello-cardiac) syndrome
โ Scribed by Digilio, Maria Cristina ;Marino, Bruno ;Giannotti, Aldo ;Mingarelli, Rita ;Dallapiccola, Bruno
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 223 KB
- Volume
- 58
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Ritscher-Schinzel syndrome, also known as the 3C syndrome, is a rare, autosomal recessive syndrome characterized by craniofacial, cerebellar, and cardiac anomalies. Cardiac manifestations include ventricular septal defect, atrial septal defect, tetralogy of Fallot, double outlet right ventricle, hyp
## Abstract RitscherโSchinzel (cranioโcerebelloโcardiac, 3C) syndrome is a multiple congenital anomaly syndrome that is considered to be autosomal recessive although no genetic defect has yet been identified. In a consanguineous Saudi family, we have identified four patients who meet the diagnostic
In a previous report of a patient with partial deletion of chromosome 8 and atrioventricular canal (AVC), review of the pertinent literature showed a high prevalence of AVC in 8p-syndrome and suggested a nonrandom association of the 2 conditions [Marino et al., 19921. Recently we observed an additio