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

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 microcephal...

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Detalles Bibliográficos
Autores principales: Breinis, Paulo, Alves, Flavio Geraldes, Alves, Camila AE, 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3890486/
https://www.ncbi.nlm.nih.gov/pubmed/24397283
http://dx.doi.org/10.1186/1471-2377-14-4
Descripción
Sumario: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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