Acrodysostosis with unusual iridal color changing with age.
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.
Nii
Eiji
E
Department of Orthopedic Surgery, Mie Prefectural Kusanomi Rehabilitation Center, Tsu, Japan. niie00@pref.mie.jp
Urawa
Masao
M
Nshimura
Toshiko
T
Kitou
Hiroshi
H
Ikegawa
Shiro
S
Shimizu
Shin
S
Taneda
Hiroshi
H
Uchida
Atsumasa
A
Niikawa
Norio
N
D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000235:genetics; D004413:Dysostoses / Q000235:genetics*; D005127:Eye Color / Q000235:genetics*; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome