Article
Clinical imaging findings in a girl with Hutchinson-Gilford progeria syndrome.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2012
Chen C P, Lin S P, Lin D S, Liu Y P, Hsu L J, Wang W
Abstract excerpt
We report an 82-year-old girl with premature aging, a karyotype of 46,XX and a de novo c.1824C>T mutation encoding p.G608G in the lamin A gene. The clinical features of accelerated aging and the molecular finding were consistent with the diagnosis of Hutchinson-Gilford progeria syndrome (HGPS). In this presentation, we demonstrate the radiological imaging findings of skeletal, oral and craniofacial phenotypes of...
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