Abstract

Cutis laxa is a connective tissue disorder caused by deficiency of fibro elastic plexus, which can involve multiple organs. It is inherited in autosomal dominant, autosomal recessive, and X-linked. Autosomal recessive cutis laxa type 2, which appears to compromise a spectrum of disorders, starts with severe wrinkly skin syndrome and leads to more severe diseases related to growth and developmental delays and skeletal anomalies. The clinical manifestations in some of cases of Cutis laxa consist of redundant loose skin, pre-and post-natal growth deficiency, mental retardation, large fontanels, and dislocation of the hips. The authors present the case of a female patient with involved internal organ disorder and delay in growth in addition to skin laxity in which gene sequence analysis of PYCR1 indicated C.797G>A mutation.

 

Keywords: connective tissue disorder, Cutis laxa Autosomal Recessive, wrinkled skin
 
 
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Current Issue

Volume 12, issue 1, January-March 2020


Next Editorial:

In April-June 2020 issue, the journal will publish an editorial from Morocco (Dr. Benksim, Higher Institute of Nursing Professions and Health Techniques, Morocco). The editorial talks about lessons from COVID-19 pandemic and the Morocco’s success story. The April-June issue is expected to be published by end of June 2020.


 

The worldwide spread of COVID-19 as an emerging, rapidly evolving situation, and the dramatic need of urgent medicine or vaccine, has rapidly brought new hypotheses for pathophysiology and potential medicinal agents to the fore. It is crucial that the research community provide a way to publish this research in a timely manner.

To contribute to this important public health discussion, the Electronic Physician Journal is excited to announce a fast-track procedure to help researchers publish their articles on COVID-19 related subjects that fall under the broad definition of public health, internal medicine, and pharmacology. We are especially welcome to all hypotheses about the pathological basis of the COVID-19 infection and the possible characteristics of potential medicine and vaccine. Submit your manuscript here


 

The 6th World Conference on Research Integrity (WCRI) is to be held on June 2-5, 2019 in Hong Kong.

The WCRI is the largest and most significant international conference on research integrity. Since the first conference in Lisbon in 2007, it has given researchers, teachers, funding agencies, government officials, journal editors, senior administrators, and research students opportunities to share experiences and to discuss and promote integrity in research. Read more:


 

TDR Clinical Research and Development Fellowships

Call for applications

Deadline for submission: 7 March 2019, 16:00 (GMT)

TDR provides fellowships for early- to mid-career researchers and clinical trial staff (e.g. clinicians, pharmacists, medical statisticians, data managers, other health researchers) in low- and middle-income countries (LMICs) to learn how to conduct clinical trials. Read more:


Meta-Analysis Workshops in New York, USA, and London, UK, in April and May 2019

Don't miss this exceptional opportunity to learn how to perform and report a Meta-analysis correctly. Two Meta-analysis workshops are organized in April and May 2019 by Dr. Michael Borenstein in New York, USA (April 08-10, 2019) and London, UK (May 27-29).

About the Instructor

Dr. Michael Borenstein, one of the authors of Introduction to Meta-Analysis, is widely recognized for his ability to make statistical concepts accessible to researchers as well as to statisticians. He has lectured widely on meta-analysis, including at the NIH, CDC, and FDA. Read more: