A Case of Chromosome 16 Disorder with Unilateral Multicystic Displastic Kidney.

Lim,  Ji Eun; Kim,  So Young

Case Report

Journal of the Korean Society of Neonatology 2007;14(2):243-246.
Published online November 1, 2007.

A Case of Chromosome 16 Disorder with Unilateral Multicystic Displastic Kidney.

Ji Eun Lim, So Young Kim

Department of Pediatrics, College of Medicine, Catholic University, Seoul, Korea. sykimped@catholic.ac.kr

일측 다낭성 신 이형성증이 동반된 16번 염색체 이상 1례

Abstract

The survival rate of neonates with aberrations of chromosome 16 is very low because they are incompatable with life. We encountered a case of a chromosome 16 aberration in a female neonate who showed multiple congenital malformations suggestive of chromosomal anomaly including round face, hypertelorism, low-set ears, cleft palate, multiple heart anomalies, bilateral hearing loss, right multicystic dysplastic kidey, proximally located thumbs, planovalgus, and muscle hypotonia. We report the case with a brief review of the literature.

Key Words: Chromosome 16 aberration; Multicystic dysplastic kidney; Multiple congenital anomaly