Premature aging and immunodeficiency: Mulvihill-Smith syndrome?

Am J Med Genet. 1993 Mar 1;45(5):597-600. doi: 10.1002/ajmg.1320450516.


We report on a 30-year-old woman with premature aging, immunodeficiency, and other abnormalities. She had many manifestations of the Mulvihill-Smith syndrome, a disorder that has been described in 4 sporadic individuals, ranging in age from 4 to 17 years. The common manifestations include short stature, microcephaly, a senile face with an underdeveloped lower half, diminished facial subcutaneous fat, multiple pigmented nevi, sensorineural hearing loss, and a low IgG level. Our patient also had severe mental retardation, brachydactyly, severe T cell dysfunction, and suffered from severe verruca vulgaris and a chronic, active Epstein-Barr virus infection. The fact that her parents were first cousins suggests autosomal recessive inheritance of her disorder. Two alternative possibilities were considered: the disorder in the patient represents the Mulvihill-Smith syndrome with immune deficiency as a sign of its advanced stage, or a hitherto undescribed syndrome.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Deafness / genetics
  • Female
  • Genes, Recessive
  • Growth Disorders / genetics
  • Humans
  • Immunologic Deficiency Syndromes / genetics*
  • Intellectual Disability / genetics
  • Microcephaly / genetics
  • Syndrome
  • Werner Syndrome / genetics*