Article
Mulvihill-Smith progeria-like syndrome: a further report with delineation of phenotype, immunologic deficits, and novel observation of fibroblast abnormalities.
American journal of medical genetics - 3 Mar 1997
de Silva D C, Wheatley D N, Herriot R, Brown T, Stevenson D A, Helms P, Dean J C
Abstract excerpt
We report the seventh case of Mulvihill-Smith progeria-like syndrome in a 5-year-old boy with a thin, pinched face, failure to thrive, and cutaneous pigmented nevi. The patient's motor and intellectual development were normal. His immune function tests demonstrate evidence of lymphopenia with no selective loss of a major subpopulation, low immunoglobulin (Ig)G2 and IgG4 subclasses, and an absent in vitro...
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