Treacher Collins症候群の1家系

A Family with Treacher Collins Syndrome

I．はじめに

　Treacher Collins症候群はmandibulofacial dysostosis，Franceschetti症候群など多くの名で呼ばれ，欧米においてはその報告例数も多く，また明らかに遺伝の証明しうる症例の報告も多いが，本邦では明らかに遺伝の証明しうる症例の報告は少ない。

　今回幸いにもわれわれは患児を発端者として，父方の家系に少なくとも4代にわたり11名中7名に本症候群を認めた症例を経験したので，若干の文献的考察を加えて報告する。

　A family with Treacher Collins syndrome was reported. A 3-year-old boy was suspected of hard of hearing and retardation of speech development by his mother. He was diagnosed as having Treacher Collins syndrome. Seven out of 11 members through 4 generations in his family, i.e. his father, uncle, uncle's son, grandmother, her brother and grand-grand mother, were found to have this syndrome. The family demonstrated incomplete autosomal dominant transmission.