Case report: Adult phenotype of Mulvihill-Smith syndrome.

  title={Case report: Adult phenotype of Mulvihill-Smith syndrome.},
  author={Tatsuhiko Yagihashi and Motoichiro Kato and Kosuke Izumi and Rika Kosaki and Kaori Yago and Kazuo Tsubota and Yasuhiro Sato and Michiharu Okubo and Goro Watanabe and Takao Takahashi and Kenjiro Kosaki},
  journal={American journal of medical genetics. Part A},
  volume={149A 3},
Mulvihill-Smith syndrome (MSS) is characterized by premature aging, multiple pigmented nevi, decreased facial subcutaneous fat, microcephaly, short stature, mental retardation and recurrent infections, however the adult phenotype of MSS has yet to be delineated. We report a 28-year-old woman with Mulvihill-Smith syndrome, who had a solid pseudopapillary cystic tumor of her pancreas at age 17 years. Her distinctive sleep pattern includes severe insomnia with disappearance of sleep spindles and K… CONTINUE READING

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