馬蹄腎および水腎症を伴つた18トリソミー症候群の1例

A CASE OF 18-TRISOMY SYNDROME WITH HORSESHOE KIDNEY AND HYDRONEPHROSIS

緒言

　近年染色体異常による疾患の研究が進み，染色体異常を伴ういくつかの症候群が明らかにされてきた。

　これらのうち常染色体が1本過剰で多発奇形を合併するものがトリソミー症候群と呼ばれており，現在のところD₁（13）トリソミー症候群，18トリソミー症候群，ダウン症候群，Cトリソミー・モザイク症候群，猫目症候群が判明している。

A girl weighing 2, 390gm was delivered at term on July 3, 1971 to a 35-year-old mother and 37-year-old father. Two spontaneous abortions had occurred between the first and second sibling in a sibship of three.

The baby was admitted to Kanagawa Children's Medical Center at 7 days of age because of difficulty in feeding since birth for 8 months.

She had a small face, low-set ears, micrognathia, a pinched short nose and rockerbottom heels.