Neurofibromatosis-Noonan Syndrome With Primary Amenorrhoea: A Case Report

Neurofibromatosis-Noonan syndrome is a rare RASopathy syndrome. It occurs due to the mutation in NF1 gene and patients present with phenotypic features of both Neurofibromatosis Noonan Here case an early adolescent girl described who presented chief complaint primary amenorrhoea on evaluation was diagnosed be patient The index short-statured short broad neck. Physical examination revealed pointed pinna, hypertelorism, telecanthus, characteristic facies, multiple freckles all over body. She also had numerous atypical café-au-lait spots. Whole genome sequencing which likely pathogenic variant causative typical phenotype neurofibromin (NF1) chromosome 17q11. We discuss here management follow-up case.