Acrodysostosis with unusual iridal color changing with age.

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.

• Authors: Eiji Nii, Masao Urawa, Toshiko Nshimura, Hiroshi Kitou, Shiro Ikegawa, Shin Shimizu, Hiroshi Taneda, Atsumasa Uchida, Norio Niikawa
• Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics (Am J Med Genet B Neuropsychiatr Genet) Vol. 144B Issue 6 Pg. 824-5 (Sep 05 2007) ISSN: 1552-4841 [Print] United States
• PMID: 17440934 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2007 Wiley-Liss, Inc.

Topics

• Abnormalities, Multiple (genetics)
• Child
• Child, Preschool
• Developmental Disabilities (genetics)
• Dysostoses (genetics)
• Eye Color (genetics)
• Female
• Hand Deformities, Congenital (genetics)
• Humans
• Infant
• Male
• Syndrome