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

July-September 2019 (Volume 11, Issue 3)


 

Previous Issue

In the second issue of the journal Electronic Physician for 2019, we have several papers including four Randomized Controlled Trials, a model development study, a case report, an editorial, a letter to editor (LTE), and several original research including two studies with qualitative approach. Authors of this issue are from nine countries: Iran, The Netherlands, Sweden, Italy, India, Thailand, Saudi Arabia, United Arab Emirates (UAE), and Jordan. Read more...


 

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: