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...

Full description

Saved in:
Bibliographic Details
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
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1471-2377
1471-2377
DOI:10.1186/1471-2377-14-4