3C syndrome: third occurrence of cranio‐cerebello‐cardiac dysplasia (Ritscher‐Schinzel syndrome)
- 1 March 1989
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 35 (3) , 205-208
- https://doi.org/10.1111/j.1399-0004.1989.tb02929.x
Abstract
We report a child with an unusual pattern of malformations: severe delay in bone maturation, wide fontanelles and facial dysmorphism (evoking cleidocranial dysplasia), relative macroencephaly with cerebellar vermis hypoplasia, hypertelorism, skeletal abnormalities (1st ribs aplasia, multifocal sternal ossification centers, thin bones), septal defect, muscular waste, hypotonia and developmental delay. Most of these features have been reported previously by Ritscher, Schinzel et al. in two sibs, who suffered more severe cerebellar malformations (Dandy-Walker cyst or vermis aplasia). We propose 3C syndrome as an easy acronym for this Cranio-Cerebello-Cardiac dysplasia.Keywords
This publication has 1 reference indexed in Scilit:
- Dandy‐Walker (like) malformation, atrio‐ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: A new syndrome?American Journal of Medical Genetics, 1987