Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients.

Unlabelled: The aim of this retrospective study is to describe ocular findings in a large Noonan syndrome cohort and to detect associations between ocular features and genetic mutations that were not found in earlier studies. We collected ophthalmological and genetic data of 105 patients (median age, 12 years; range, 0-60 years) clinically diagnosed as Noonan syndrome. The ocular findings were linked to the genotypes.

Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation.

Noonan syndrome (NS) is an autosomal dominant multisystem condition with a variable phenotype. The most characteristic features are short stature, congenital heart defects, and recognizable facial features. Mutations in SOS1 are found in 10-20% of patients with NS.

Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.

Existing literature only reports a few patients with Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) who underwent cochlear implantation (CI). The present study describes four NS patients and one NSML patient with a PTPN11 mutation. They all had severe to profound hearing loss, and they received a CI.

Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

Purpose: To determine the full spectrum of ocular manifestations in patients with Noonan syndrome (NS).

Design: Prospective cross-sectional clinical and genetic study in a tertiary referral center.

Participants: Twenty-five patients with NS (mean age, 14 years; range, 8 months-25 years) clinically diagnosed by validated criteria.

External ear anomalies and hearing impairment in Noonan Syndrome.

Objective: This is the first cohort in which hearing impairment and external ear anomalies in Noonan Syndrome are described extensively.

Methods: Retrospective analysis of the otorhinolaryngological and clinical genetic data from 97 Noonan Syndrome (NS) patients. Forty-four NS patients were seen by an otorhinolaryngologist for the analysis of hearing impairment.

Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature.

Individuals with the 18q deletion syndrome are presented with various clinical characteristics, including cardiac anomalies in 24-36% of the reported cases. Nonetheless, genotype-phenotype correlations for cardiac anomalies in the 18q deletion syndrome have rarely been reported. We report on two girls with a terminal 18q deletion, one in whom an Ebstein anomaly and Wolff-Parkinson-White syndrome were detected and the other with multiple valve stenosis and a ventricular septal defect.