遺伝性エナメル質減形成症家系調査成績

概要

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A nine month old female was found to have hereditary enamel hypoplasia at ABCC clinic, Nagasaki, in 1953. Subsequently, eleven out of 34 members examined in this kindred were found to have enamel hypoplasia in three generations. consistent with an autosomal dominant pattern. The mother of the proposita had, in addition to the enamel hypoplasia, multiple bony anomalies of the both hands which was considered to be congenital in nature. No other members of the family had such apparent hand anomalies. Her children, however, showed minor bony changes. One of the cousins of the proposita was found to be phenylketonuric, in addition to having enamel hypoplasia. Furthermore, four persons on the maternal side of the child with phenylketonuria were found to have had disorders of the central nervous system. An attempt to find a specific abnormal pattern of free amino acids in the plasma and urine of the patients with enamel hypoplasia was unsuccessful.
長崎大学熱帯医学研究所,Institute of Tropical Medicine, Nagasaki Universityの論文