Cognition and emotion in adults with Noonan syndrome. A neuropsychological perspective

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

Purpose The purpose of this review is to provide an update on ophthalmological manifestations of Noonan Syndrome (NS). Emerging evidence has suggested that NS patients may present with a wide spectrum of ocular characteristics. Detailed investigation of genotype has revealed the diversity of related gene mutations. The potential association of genetic basis with clinical expressivity of phenotype remains a challenging aspect of this issue. Methods A literature search was performed in PubMed; we have analyzed prospective and retrospective cohort studies, case reports, and reference lists of retrieved articles until February 2021. We identified all papers referring to NS ocular manifestations referring to genotype and phenotype characteristics. Results A comprehensive update on ocular manifestations of NS patients indicates significant evidence for variability of genotype and phenotype features. Ophthalmologic features of NS are characterized by a wide spectrum of abnormalities; external ocular malformations, distortions of refraction, alignment, motilily, anterior and posterior ocular segment and visual impairment. Currently, a variety of pathogenic mutations in patients with NS have been investigated, while the nature of the genetic variants may determine expressivity. Albeit it remains a clinical diagnosis with variation in the progress of each NS phenotype. Although the available evidence that is needed to establish genotype-phenotype correlation as predicting factor in clinical practice is limited, it could aid risk assessment and patient management. Conclusion A review of the existing literature sheds light on the ocular characteristics of NS. The current article discusses notable aspects of key publications on the topic, highlights the importance of the potential genotype-phenotype correlation in clinical practice, and proposes the need for further future research.

A Narrative Review of the Ocular Manifestations in Noonan Syndrome

Resume Introduction Le syndrome du bebe collodion (BBC) correspond a un etat cutane pathologique, present des la naissance, du a la presence d’une couche cornee epaisse. L’exfoliation commence tot par des craquelures de la membrane collodionnee. Les craquelures peuvent rester superficielles ou s’approfondir et toucher le derme superficiel : elles realisent alors des fissures. L’etude de 33 BBC permet de preciser l’aspect clinique des fissures, leur frequence, leur incidence pathologique et les modalites therapeutiques. Malades et methodes Le diagnostic de BBC est fait cliniquement sur la constatation neonatale de la membrane collodionnee. La reconnaissance des craquelures et des fissures est clinique. Leur topographie, leur chronologie et leur retentissement sont evalues. La surveillance bacteriologique des fissures est realisee sur un element cliniquement infecte et systematiquement deux fois par semaine sur une fissure inguinale. Le protocole de soins du BBC a ete valide et fait appel a l’huile de vaseline sterile. Les fissures sont desinfectees. Resultats Les craquelures sont constantes. Les fissures surviennent dans 20 BBC sur 33. Leur topographie preferentielle est les grands plis. Trois fois un antalgique morphinique a ete necessaire. Sur les fissures inflammatoires, un germe pathogene est constamment isole. Une dissemination septicemique a ete prouvee quatre fois. Le germe responsable a toujours ete isole prealablement sur les fissures inflammatoires. Lorsque les fissures sont inguinales ou interfessieres, le Candida albicans est toujours present. Des brides keratosiques peuvent apparaitre apres cicatrisation d’une fissure digitale : un geste chirurgical est alors necessaire. Discussion Les fissures sont des lesions secondaires aux craquelures. Elles sont presentes dans 20 cas sur les 33 BBC. Ces lesions secondaires sont rarement mentionnees dans la litterature. Les raisons de cet oubli sont discutees. Tous les etats de BBC peuvent se compliquer de fissures, d’autant plus que la membrane collodionnee est epaisse. Le traitement topique n’empeche pas toujours la transformation des craquelures en fissures. Lorsque les fissures ne sont pas inflammatoires, la prescription d’antibiotique per os n’est pas systematique. La surveillance bacteriologique repetee multisites des fissures permet de decider d’une antibiotherapie adaptee. Les fissures douloureuses et la surinfection sont les objectifs majeurs de la prise en charge des BBC.

Les fissures cutanées du bébé collodion : incidence et prise en charge

We present two cases of ichthyosiform erythroderma associated with severe bilateral genu valgum. Other musculoskeletal features associated with this condition are described. The details and outcome of operative intervention for the correction of the deformities are discussed. The disturbances of the

Severe bilateral rachitic genu valgum in patients with nonbullous congenital ichthyosiform erythroderma: a report of two cases and review of literature.

A 21-year-old woman presented with non-bullous congenital ichthyosiform erythroderma; she was born a collodion baby. Associated features were ocular albinism, anterior segment dysgenesis of both eyes and Noonan syndrome. X-linked ichthyosis (steroid sulphatase deficiency) and X-linked ocular albinism have been mapped to the Xp22.3 region and cases have been reported with both conditions due to a partial short-arm deletion of the X chromosome. The ichthyosis and ocular albinism in the present case, however, are likely to be of the autosomal recessive type - a very rare association - and the combination with Noonan syndrome has not been reported previously.

Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome.

Handle everyday research tasks with reliable, citation-backed results

Your personal Research Agent to handle research tasks with citation-backed results

Popular Tasks used by Researchers

How can I help with your research?

Meet SciSpace

Get more enhanced response by uploading the PDFs you want me to reference.

No relevant PDFs in your library

SciSpace is the AI research assistant for academics. Run systematic literature reviews on 280M+ papers, and write papers with cited sources. Trusted by 1M+ students, PhDs & researchers.

SciSpace | AI for Research

Analyze PDFs

Code & Manuscripts

Funding & Grants

Literature & Patents

Medical & Clinical Data

Systematic Review

Visualize & Present

Web & Data

Build a Google Scholar-like website for your research.

Build a website

Create charts and images for your research

Create a Chart

Write a paper for submission to a journal

Draft a manuscript

Patent Search

Design eye-catching scientific posters in minutes.

Scientific Poster Generation

Systematic Literature Review

One task is running at the moment. Your messages will be shown right after.

Drag and drop or click here to browse

Loved by <highlight>1 million+</highlight> researchers

Extract a list of specific topics and their sources from unstructured text

Topics

Compare and analyze relevant papers that matches with your search

Papers

Get insights from PDFs and bookmarked papers from your library

My library

Recent searches

Try searching for:

Catch AI-generated content in scholarly and non-scholarly content

{ai} Detector

Ai Writer

Get PDF Summaries, highlighted text explanations 

Chat with PDF

Effortlessly create in-text citations and bibliographies in APA and 2,500 other formats

Citation generator

Get explanations, summaries, and answers on academic papers

Ease up your research workflow with {scispace}'s cohort of exciting AI tools

Elevate your academic writing skills and convey your ideas the way you want

Paraphraser

Explore our range of reading and writing tools

Your file is being prepared and should be ready in a few minutes. If it's a large file, it might take a bit longer. You can close this window, and we'll email you the file when it's done.

You have reached a maximum limit of <strong>{limit}</strong> columns in the table. Remove at least <strong>1</strong> column to add or create another one.

S. Hardman-Lea

Author Tools

Chat about Author

Papers

Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome.