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

The Mulvihill-Smith Syndrome was first recognized in 1975. After the recognition of the Mulvihill-Smith Syndrome, ten cases have been described. This article describes the eleventh case of this syndrome in a male patient, 24 years-old with short stature and microcephaly with mild cognitive impairmen...

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Published in:BMC neurology 2014-01, Vol.14 (1), p.4-4, Article 4
Main Authors: Breinis, Paulo, Alves, Flavio Geraldes, Alves, Camila A E, Cintra, Rafael G, Almeida, Débora, Passarelli, Priscila C, Domingues, Camila, Gerbim, Talita, Gasparetto, Régia, de Abreu, Luiz Carlos, Valenti, Vitor E, de Oliveira, Adriana Gonçalves, de Mello Monteiro, Carlos Bandeira, Wajnzstejn, Rubens
Format: Article
Language:English
Subjects:
B cells
Body height
Case Report
Case studies
College teachers
Growth Disorders - diagnosis
Growth Disorders - psychology
Health aspects
Humans
Male
Medical research
Medicine, Experimental
Nevus, Pigmented - diagnosis
Nevus, Pigmented - psychology
Progeria - diagnosis
Progeria - psychology
Young Adult
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creator Breinis, Paulo
Alves, Flavio Geraldes
Alves, Camila A E
Cintra, Rafael G
Almeida, Débora
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Domingues, Camila
Gerbim, Talita
Gasparetto, Régia
de Abreu, Luiz Carlos
Valenti, Vitor E
de Oliveira, Adriana Gonçalves
de Mello Monteiro, Carlos Bandeira
Wajnzstejn, Rubens
description The Mulvihill-Smith Syndrome was first recognized in 1975. After the recognition of the Mulvihill-Smith Syndrome, ten cases have been described. 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. Based on the entire set of signs and symptoms presented in our study, it was diagnosed the patient with Mulvihill-Smith Syndrome.
doi_str_mv 10.1186/1471-2377-14-4
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source Publicly Available Content Database; PubMed Central
subjects B cells
Body height
Case Report
Case studies
College teachers
Growth Disorders - diagnosis
Growth Disorders - psychology
Health aspects
Humans
Male
Medical research
Medicine, Experimental
Nevus, Pigmented - diagnosis
Nevus, Pigmented - psychology
Progeria - diagnosis
Progeria - psychology
Young Adult
title The eleventh reported case of Mulvihill-Smith syndrome in the literature
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