Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
Pedigree Analysis01:35

Pedigree Analysis

Overview

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Hidden burden of primary Epstein-Barr virus (EBV) infection in pediatric febrile illness (0-12 years) - A retrospective study.

Journal of postgraduate medicine·2026
Same author

Long-term deep phenotyping of behavioral traits in mice using homecage monitoring.

Neuroscience and biobehavioral reviews·2025
Same author

The INTERACT study: Infection prevention and surveillance practice in the care of the Australasian cancer and transplant population.

American journal of infection control·2025
Same author

Adapting the MPOWER policy framework for fossil fuels and public health: reflections on content and process.

Perspectives in public health·2025
Same author

Erratum: Centrality-Dependent Modification of Jet-Production Rates in Deuteron-Gold Collisions at sqrt[s_{NN}]=200  GeV [Phys. Rev. Lett. 116, 122301 (2016)].

Physical review letters·2025
Same author

A cross-cultural study translating and validating the COMPAT-SF pain questionnaire in Telugu, Bengali and Hindi.

Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology·2025

Related Experiment Video

Updated: May 28, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Wiedemann-Rautenstauch syndrome.

J P Narayan1, P Garg, G Pareek

  • 1Department of Pediatrics, JLN Medical College, Ajmer, Rajasthan, India. Narayan_jaiprakash@yahoo.co.in

Indian Pediatrics
|October 14, 2011
PubMed
Summary

Wiedemann Rautenstauch syndrome is a rare genetic disorder affecting newborns. This report details a case with characteristic skin peeling and initial breathing difficulties.

Area of Science:

  • Genetics
  • Neonatology
  • Pediatric Endocrinology

Background:

  • Wiedemann Rautenstauch (WR) syndrome is an exceptionally rare autosomal recessive neonatal progeroid syndrome.
  • Published case reports are limited, underscoring the rarity and diagnostic challenges of WR syndrome.

Observation:

  • This report details a neonate presenting with clinical manifestations consistent with WR syndrome.
  • The neonate exhibited generalized skin peeling, a weak cry, and significant breathing difficulties from birth.

Findings:

  • The neonate displayed key clinical features indicative of Wiedemann Rautenstauch syndrome.
  • Early-onset respiratory distress and skin abnormalities were prominent initial findings.

Implications:

More Related Videos

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
05:12

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Published on: September 19, 2019

Multifactorial Assessment of Motor Behavior in Rats after Unilateral Sciatic Nerve Crush Injury
14:50

Multifactorial Assessment of Motor Behavior in Rats after Unilateral Sciatic Nerve Crush Injury

Published on: July 31, 2021

Related Experiment Videos

Last Updated: May 28, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
05:12

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome

Published on: September 19, 2019

Multifactorial Assessment of Motor Behavior in Rats after Unilateral Sciatic Nerve Crush Injury
14:50

Multifactorial Assessment of Motor Behavior in Rats after Unilateral Sciatic Nerve Crush Injury

Published on: July 31, 2021

  • This case contributes to the limited literature on Wiedemann Rautenstauch syndrome.
  • Further case reports are crucial for understanding the spectrum and management of this progeroid syndrome.