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

• Grant number: 13/24593-0
• Support Opportunities: Regular Research Grants - Publications - Scientific article
• Start date: December 01, 2013
• End date: May 31, 2014
• Field of knowledge: Health Sciences - Medicine - Maternal and Child Health
• Principal Investigator: Luiz Carlos de Abreu
• Grantee: Luiz Carlos de Abreu
• Host Institution: Faculdade de Medicina do ABC (FMABC). Organização Social de Saúde. Fundação do ABC. Santo André , SP, Brazil

Abstract

Background: The Mulvihill -Smith Syndrome was first recognized in 1975. After the recognition of the Mulvihill-Smith Syndrome, ten cases have been described. Results: 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. (AU)