Wiedemann-Rautenstrauch syndrome: report of a variant case

American Journal of Medical Genetics. Part a
Aslihan KirazYasemin Alanay

Abstract

Wiedemann-Rautenstrauch syndrome (WRS) is a rare autosomal recessive disorder that includes premature aging phenotype at birth. The condition is also known as a neonatal progeroid syndrome. Up to now only a few published case reports have been documented. The syndrome is characterized by progeroid appearance, decreased subcutaneous fat, hypotrichosis, macrocephaly, and in some natal teeth. We describe a new patient with features of bilaterally pelvicalyceal ectasia and partial syndactyly on 2th and 3th toes, not previously described, to our knowledge.

References

Nov 1, 1994·Klinische Pädiatrie·T RautenstrauchH R Wiedemann
May 1, 1997·Journal of Medical Genetics·H ArboledaE Yunis
Jun 25, 2003·Zeitschrift für Orthopädie und ihre Grenzgebiete·F ThoreyA Wild
Apr 24, 2004·Klinische Pädiatrie·T HoppenM Rister
Jul 12, 2005·Birth Defects Research. Part A, Clinical and Molecular Teratology·Humberto Arboleda, Gonzalo Arboleda
Sep 10, 2010·Indian Journal of Dermatology, Venereology and Leprology·Uma Shankar AgarwalGauri Panse
Jun 2, 2011·Indian Journal of Pediatrics·Meenu PandeyArvind Saili
Oct 7, 2011·Annals of Pediatric Cardiology·Natesh B HanumanthappaCholenahally N Manjunath

❮ Previous
Next ❯

Citations

Nov 26, 2014·Journal of Perinatology : Official Journal of the California Perinatal Association·C H BecerraH A Salazar Martínez
Dec 23, 2015·Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus·Michael R Barkley, Stephen B O'Hagan
Sep 10, 2016·American Journal of Medical Genetics. Part a·Allison M JayHelga V Toriello
Apr 28, 2017·American Journal of Medical Genetics. Part a·Stefano PaolacciRaoul C Hennekam
Jul 19, 2018·Bioinformatics·Alberto ValdeolivasAnaïs Baudot

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Birth Defects Research. Part A, Clinical and Molecular Teratology
Nadia A AkawiLihadh Al Gazali
American Journal of Medical Genetics. Part a
Brendan O'NeillAbhimanyu Garg
© 2021 Meta ULC. All rights reserved