Noonan Syndrome – Case Report

The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability

“…A geneticist worked with the study team to draft the vignettes; some were also informed by case reports in the literature. [21][22][23][24][25] All vignettes provided explicit details about the diagnostic, prognostic, management, reproductive, or psychosocial impact of genetic test results to enable raters to respond to all C-GUIDE items (Version 1.1). The vignettes were reviewed for face validity by 3 clinical geneticists.…”

Optic Disk Coloboma and Contralateral Optic Disk Pit Maculopathy Treated by Vitrectomy in a Patient With Noonan Syndrome With Multiple Lentigines

“…It would be interesting to investigate whether PTPN11 gene mutations could be involved in the occurrence of cavitary optic disk anomalies. Although many cases of optic disk coloboma with Noonan syndrome have been described, Vujanovic et al 8 were the first to describe the association between Noonan syndrome (which is closely related to NSML) and bilateral ODPs. Their case of Noonan syndrome also demonstrated a mutation in the PTPN11 gene , which is involved in 50% of Noonan syndrome cases.…”

RAF-1 Mutation Associated with a Risk for Ventricular Arrhythmias in a Child with Noonan Syndrome and Cardiovascular Pathology

“…NS includes various degrees of clinical manifestations with multiple congenital anomalies, therefore, a scoring system was created by Burgt I et al in 1994, to facilitate the diagnostic process ( 10 ). The scoring system includes major and minor criteria regarding facial features, cardiac defects, growth pattern, chest deformity, family history and others.…”

“…The scoring system includes major and minor criteria regarding facial features, cardiac defects, growth pattern, chest deformity, family history and others. Definitive diagnosis is established by the presence of two major criteria; one major criterion plus two minor criteria; two major criteria and one minor criterion or four minor criteria ( 10 ). The scoring system is important for early recognition and specific treatment.…”

“…The scoring system is important for early recognition and specific treatment. However, despite the presence of the scoring system, performing genetic testing, whenever possible, is important ( 10 ). The diagnosis of a genetic mutation allows the clinician to predict the severity of cardiac abnormalities, patient’s evolution, as well as overall prognosis according to the cardiovascular disease severity.…”