释义 |
Walt Disney Dwarfism Geroderma Osteodysplastica. A rare autosomal recessive [MIM 231070] condition characterised by stunting of growth, marked senile changes of the skin with wrinkling, corneal opacification, osteoporosis with multiple bone fractures and deformities; the facial dysmorphia of these patients have a ‘droopy, jowled, prematurely aged appearance’, hence the commonly used alternative term |