Table of Contents

HK J Paediatr (New Series)
Vol 19. No. 3, 2014

HK J Paediatr (New Series) 2014;19:181-184

Case Report

Two Siblings with Currarino Syndrome with 7q34 Deletion Due to Maternal t(7;14)(q34;p13)

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.

Keyword : Currarino syndrome; Microcephaly; MNX1; Sacral dysgenesis


Abstract in Chinese

 
 

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