Ş Yildirim, N Topaloğlu, F Silan, D Kuru

Abstract

Currarino syndrome is a rare but well-described form of caudal regression syndrome characterised by anorectal malformations, sacral bony defects and a presacral mass. We present two siblings with Currarino triad due to pure 7q34 deletion but different phenotypes. They had the typical spectrum of sacral agenesis, pre-sacral tumor and anorectal malformations. Interestingly, they have the same genotype but different dysmorphic characteristics. Chromosomal analysis detected that the mother was carrier. To the best of our knowledge, this is the first reported 7q34-14p translocation.

Currarino綜合徵是一種罕見的尾部退化綜合徵，但卻頗多文獻詳盡載述此綜合徵，徵狀為肛門直腸畸形、骶骨骨缺損及骶前腫物。我們描述兩兄弟單純7q34缺失導致Currarino綜合徵，但兩者卻具有不同的表型。他們有骶骨發育不全、骶前腫物和肛門直腸畸形的典型表現。有趣的是，它們具有相同的基因型，但有不同的畸形特徵。染色體分析發現，母親是有關基因的攜帶者。據知，這是有關報導7q34-14P易位的首例。