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Published in: BMC Neurology 1/2014

Open Access 01-12-2014 | Case report

The eleventh reported case of Mulvihill-Smith syndrome in the literature

Authors: Paulo Breinis, Flavio Geraldes Alves, Camila AE Alves, Rafael G Cintra, Débora Almeida, Priscila C Passarelli, Camila Domingues, Talita Gerbim, Régia Gasparetto, Luiz Carlos de Abreu, Vitor E Valenti, Adriana Gonçalves de Oliveira, Carlos Bandeira de Mello Monteiro, Rubens Wajnzstejn

Published in: BMC Neurology | Issue 1/2014

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Abstract

Background

The Mulvihill-Smith Syndrome was first recognized in 1975. After the recognition of the Mulvihill-Smith Syndrome, ten cases have been described.

Case presentation

This article describes the eleventh case of this syndrome in a male patient, 24 years-old with short stature and microcephaly with mild cognitive impairment, deafness and allergic conjunctivitis. The patient was hospitalized several times for repeated infections, and the presence of multiple melanocytic nevi on his skin was noticed.

Conclusions

Based on the entire set of signs and symptoms presented in our study, it was diagnosed the patient with Mulvihill-Smith Syndrome.
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Metadata
Title
The eleventh reported case of Mulvihill-Smith syndrome in the literature
Authors
Paulo Breinis
Flavio Geraldes Alves
Camila AE Alves
Rafael G Cintra
Débora Almeida
Priscila C Passarelli
Camila Domingues
Talita Gerbim
Régia Gasparetto
Luiz Carlos de Abreu
Vitor E Valenti
Adriana Gonçalves de Oliveira
Carlos Bandeira de Mello Monteiro
Rubens Wajnzstejn
Publication date
01-12-2014
Publisher
BioMed Central
Published in
BMC Neurology / Issue 1/2014
Electronic ISSN: 1471-2377
DOI
https://doi.org/10.1186/1471-2377-14-4

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