CLEIDOCRANIAL DYSPLASIA, NEUROFIBROMATOSIS TYPE-I WITH FRONTAL LOBE GLIOMA

Cleidocranial Dysplasia Neurofibromatosis

Abstract

Introduction

Cleidocranial Dysplasia is a benign hereditary condition, inherited as an autosomal dominant. The disease has considerable variation of expression. Thirty percent of the cases are due to spontaneous mutation [1]. The gene responsible for cleidocranial dysplasia is a transcription factor in gene and is termed CBFA-I.

Neurofibromatosis type-I represents 90% of NF cases. Prevalence is 1 in 4000 persons, 50% are new mutations, 30% are AD inherited. The NF – I gene has been identified and lies on chromosome 17 q 11.2.