Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2014 Jan 7:14:4.
doi: 10.1186/1471-2377-14-4.

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

Paulo Breinis, Flavio Geraldes Alves, Camila A E 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  1
Affiliations
Review

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

Paulo Breinis et al. BMC Neurol. .

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.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Face and trunk of the patient.
Figure 2
Figure 2
Clinodactyly on hands and feet of the patient.
See this image and copyright information in PMC

References

    1. Mulvihill JJ, Smith DW. Another disorder with prenatal shortness of stature and premature aging. Birth Defects Orig Artic Ser. 1975;11:368–370. - PubMed
    1. Yagihashi T, Kato M, Izumi K, Kosaki R, Yago K, Tsubota K, Sato Y, Okubo M, Watanabe G, Takahashi T, Kosaki K. Case report: adult phenotype of Mulvihill-Smith syndrome. Am J Med Genet A. 2009;149A:496–500. doi: 10.1002/ajmg.a.32551. - DOI - PubMed
    1. Baraitser M, Insley J, Winter R. A recognizable short stature syndrome with premature ageing and pigmented naevi. J Med Genet. 1988;25:53–56. doi: 10.1136/jmg.25.1.53. - DOI - PMC - PubMed
    1. Bartsch O, Tympner KD, Schwinger E, Gorlin RJ. Mulvihill-Smith syndrome: case report and review. J Med Genet. 1994;31:707–711. doi: 10.1136/jmg.31.9.707. - DOI - PMC - PubMed
    1. Bartsch O, Ludwig D, Schwinger E, Tympner KD. Severe complications and gastric carcinoma in Mulvihill-Smith syndrome. J Med Genet. 1999;36:175. - PMC - PubMed

Supplementary concepts

LinkOut - more resources