Special Issue "Complex Genetic Syndromes in Pediatric Age"

A special issue of Reports—Medical Cases, Images, and Videos (ISSN 2571-841X).

Deadline for manuscript submissions: closed (29 March 2019).

Special Issue Editors

Dr. Donatella Milani

Guest Editor
Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy
Interests: clinical genetics; dysmorphology; multiple congenital anomalies; malformations
Dr. Giulietta Scuvera

Guest Editor
Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy
Interests: clinical genetics; dysmorphology; multiple congenital anomalies; malformations
Prof. Dr. Paola Marchisio

Guest Editor
Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122, Milan, Italy
Interests: infectious diseases; clinical genetics; otitis media in normal and complex children
Prof. Dr. Carlo Agostoni
Website1 Website2
Guest Editor
Clinica Pediatrica, Fondazione IRCCS Cà Granda-Ospedale Maggiore Policlinico, Dipartimento di Scienze Cliniche e di Comunità, Università di Milano, Via della Commenda 9, 20122 Milan, Italy
Interests: nutrition and sustainability; fatty acids in human health and disease; nutrition and sustainability
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Special Issue Information

Dear Colleagues,

The interest in rare genetic syndromes has greatly increased with the reduction of morbidity and mortality due to infectious diseases. Today, genetically transmitted conditions are a major cause of pediatric morbidity and mortality. A rare disease is defined by the European Union as one that affects less than 5 in 10,000 of the general population. Although they are singularly rare, these conditions affect a large part of the population. The European Organization for Rare Diseases (EURORDIS) estimates that as many as 5,000 to 7,000 distinct rare diseases exist, and as much as 6% to 8% of the population of the European Union is affected by one. Diagnosis means to avoid an excess of medical care, expensive diagnostic processes, and frustration for patients and their families. The advent of arrayCGH before and NGS technologies then has created a great shift in our approach to both the discovery of new disease genes and the time for diagnosis of genetic disease. In this Special Issue we look for examples of the diagnostic complexity of genetic syndromes in pediatric age.

Dr. Donatella Milani
Dr. Giulietta Scuvera
Dr. Paola Marchisio
Prof. Dr. Carlo Virginio Agostoni
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Reports—Medical Cases, Images, and Videos is an international peer-reviewed open access quarterly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1000 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Genetic syndromes
  • Malformation
  • Dysmorphism
  • Intellectual disability
  • Array CGH
  • Exome sequencing
  • Chromosome
  • Genotype-phenotype correlation

Published Papers

There is no accepted submissions to this special issue at this moment.
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