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De Sanctis-Cacchione Syndrome in a female infant - Case report

The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, neurological disorders, mental and growth retardation, with very few cases published. The clinical findings compatible with De Sanctis-Cacchione Syndrome and th...

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Autores principales: Caldas, Amadeus Lima Rocha, Rodrigues, Mecciene Mendes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Dermatologia 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3900353/
https://www.ncbi.nlm.nih.gov/pubmed/24474111
http://dx.doi.org/10.1590/abd1806-4841.20132844
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author Caldas, Amadeus Lima Rocha
Rodrigues, Mecciene Mendes
author_facet Caldas, Amadeus Lima Rocha
Rodrigues, Mecciene Mendes
author_sort Caldas, Amadeus Lima Rocha
collection PubMed
description The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, neurological disorders, mental and growth retardation, with very few cases published. The clinical findings compatible with De Sanctis-Cacchione Syndrome and the therapeutic approach used to treat a one year and nine months old child, with previous diagnosis of xeroderma pigmentosum, are reported.
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spelling pubmed-39003532014-01-29 De Sanctis-Cacchione Syndrome in a female infant - Case report Caldas, Amadeus Lima Rocha Rodrigues, Mecciene Mendes An Bras Dermatol Case Report The De Sanctis-Cacchione Syndrome is the rarest and most severe kind of xeroderma pigmentosum, characterized by microcephaly, hypogonadism, neurological disorders, mental and growth retardation, with very few cases published. The clinical findings compatible with De Sanctis-Cacchione Syndrome and the therapeutic approach used to treat a one year and nine months old child, with previous diagnosis of xeroderma pigmentosum, are reported. Sociedade Brasileira de Dermatologia 2013 /pmc/articles/PMC3900353/ /pubmed/24474111 http://dx.doi.org/10.1590/abd1806-4841.20132844 Text en http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Caldas, Amadeus Lima Rocha
Rodrigues, Mecciene Mendes
De Sanctis-Cacchione Syndrome in a female infant - Case report
title De Sanctis-Cacchione Syndrome in a female infant - Case report
title_full De Sanctis-Cacchione Syndrome in a female infant - Case report
title_fullStr De Sanctis-Cacchione Syndrome in a female infant - Case report
title_full_unstemmed De Sanctis-Cacchione Syndrome in a female infant - Case report
title_short De Sanctis-Cacchione Syndrome in a female infant - Case report
title_sort de sanctis-cacchione syndrome in a female infant - case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3900353/
https://www.ncbi.nlm.nih.gov/pubmed/24474111
http://dx.doi.org/10.1590/abd1806-4841.20132844
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