Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes

HGPS recapitulates most of the pathologies of normal aging at an accelerated rate, with sparing of the nervous system. 3 Children with HGPS usually appear normal in early infancy, but at about six months of age begin to experience profound growth delay. 4 Scalp hair, eyebrows, and eyelashes are typically lost resulting in total alopecia. 5 A gradual, almost complete lipodystrophy begins in infancy, and the skin acquires an abnormally aged appear- ance with prominent veins. In some children osteolysis may affect the clavicles, terminal phalanges, and acetabulum, and sometimes even more severe bone deformities occur, 6