Article
[A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)].
Revista de neurologia - 1 Jun 2017
Pira-Paredes S M, Montoya-Villada J H, Franco-Restrepo J L, Moncada-Velez M, Cornejo J W
Abstract excerpt
INTRODUCTION: Ritscher-Schinzel syndrome (also known as cranio-cerebello-cardiac dysplasia or 3C syndrome) is a rare genetic syndrome that is mainly characterised by the association of cardiac and craniofacial anomalies together with others affecting the posterior fossa. PATIENTS AND METHODS: We report on 26 patients with Ritscher-Schinzel syndrome at a hospital in Medellin, in the Department of Antioquia,...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Cerebellum
- Child
- Child, Preschool
- Colombia
- Cornea
- Cranial Fossa, Posterior
- Craniofacial Abnormalities
- Dandy-Walker Syndrome
- Developmental Disabilities
- Eye Abnormalities
- Female