Am J Med Genet B Neuropsychiatr Genet
September 2007
Acrodysostosis is a rare congenital anomaly syndrome characterized by peculiar facial appearance with a small nose and an open mouth, short stature, short metacarpotarsal, and phalangeal bones with cone-shaped epiphyses, advanced bone-age, and variable degrees of mental retardation. It is most likely that the disease is inherited in an autosomal dominant mode, its pathogenesis has remained unknown. We report a 4-year-old Japanese girl who suffered from acrodysostosis with unusual iridal color.
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