Nii Eiji, Urawa Masao, Nshimura Toshiko, Kitou Hiroshi, Ikegawa Shiro, Shimizu Shin, Taneda Hiroshi, Uchida Atsumasa, Niikawa Norio
Department of Orthopedic Surgery, Mie Prefectural Kusanomi Rehabilitation Center, Tsu, Japan.
Am J Med Genet B Neuropsychiatr Genet. 2007 Sep 5;144B(6):824-5. doi: 10.1002/ajmg.b.30492.
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. The color of patient's irides was gray-bluish in her infancy but became light-brownish by age 4 years. Of eight Japanese patients reported, four had abnormal eye color: a 7-month-old boy with blue irides and his 2-year-old elder sister with light-blue eyes a 6-year-old girl with gray-brownish irides, and a 4-year-old girl (present case) with blue-brownish irides. The degree of iris pigmentation in acrodysostosis patients may change with age. It is likely that the putative gene for acrodysostosis might play a role not only in remodeling of bones but also in iris pigmentation.
