Caudal duplication anomaly

Definition:

Caudal duplication anomaly is a rare type of developmental disorder that arises from incomplete separation of mono-ovular twins. It can involve various congenital anomalies, but the hallmark is duplication of organs in the caudal region, and most frequently affected organs are genitourinary and gastrointestinal tracts. Recently AXIN1 promotor has been shown to have methylation in patients with caudal duplication anomaly.

References:

[1]. H Y Kroes, et al. Two cases of the caudal duplication anomaly including a discordant monozygotic twin. Am J Med Genet. 2002 Nov 1;112(4):390-3. [Content Brief]

[2]. K N Rattan, et al. Caudal duplication--a case report. Pediatr Surg Int. 2000;16(5-6):445-6. [Content Brief]

[3]. N A Oates, et al. Increased DNA methylation at the AXIN1 gene in a monozygotic twin from a pair discordant for a caudal duplication anomaly. Am J Hum Genet. 2006 Jul;79(1):155-62. [Content Brief]

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