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Acrodysostosis with unusual iridal color changing with age
Author(s) -
Nii Eiji,
Urawa Masao,
Nshimura Toshiko,
Kitou Hiroshi,
Ikegawa Shiro,
Shimizu Shin,
Taneda Hiroshi,
Uchida Atsumasa,
Niikawa Norio
Publication year - 2007
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.30492
Subject(s) - girl , medicine , iris (biosensor) , short stature , anatomy , biology , pediatrics , genetics , computer security , biometrics , computer science
Abstract 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. © 2007 Wiley‐Liss, Inc.