Craniosynostosis, Ataxia, Trigeminal Anaesthesia and Parietal Alopecia with Pons-Vermis Fusion Anomaly (Atresia of the Fourth Ventricle). Report of two Cases

Abstract

A probably new syndrome of craniosynostosis, ataxia, trigeminal anaesthesia, and parietal alopecia area associated with pons-vermis fusion anomaly (atresia of the fourth ventricle), in two unrelated Mexican girls, is described. The cerebellar anomaly was proven by CT scan only and it correlated with ataxia. Other abnormalities seen in both patients were midfacial hypoplasia, bilateral corneal opacities, low-set ears, mental retardation and short stature. This disorder could be a new neurocutaneous syndrome.

Key words

CT scan - Pons-vermis fusion - Atresia of the fourth ventricle-craniosynostosis - Ataxia