Special Issue "Complex Genetic Syndromes in Pediatric Age"

A special issue of Reports (ISSN 2571-841X).

Deadline for manuscript submissions: 29 March 2019

Special Issue Editors

Guest Editor
Dr. Donatella Milani

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
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Interests: clinical genetics; dysmorphology; multiple congenital anomalies; malformations
Guest Editor
Dr. Giulietta Scuvera

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
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Interests: clinical genetics; dysmorphology; multiple congenital anomalies; malformations
Guest Editor
Prof. Dr. Paola Marchisio

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
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Interests: infectious diseases; clinical genetics; otitis media in normal and complex children
Guest Editor
Prof. Dr. Carlo Virginio Agostoni

Pediatric Intermediate Care Unit, Fondazione IRCCS Ospedale Ca' Granda-Ospedale Maggiore Policlinico, Department of Clinical Sciences and Community Health, University of Milan, 20122 Milan, Italy
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Phone: +39 02 55032497
Interests: growth, development, clinical nutrition, coadjuvant dietary integrations

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 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) is waived for well-prepared manuscripts submitted to this issue. 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

This special issue is now open for submission.
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