A Case of Chromosome 16 Disorder with Unilateral Multicystic Displastic Kidney.
- Author:
Ji Eun LIM
1
;
So Young KIM
Author Information
1. Department of Pediatrics, College of Medicine, Catholic University, Seoul, Korea. sykimped@catholic.ac.kr
- Publication Type:Case Report
- Keywords:
Chromosome 16 aberration;
Multicystic dysplastic kidney;
Multiple congenital anomaly
- MeSH:
Chromosomes, Human, Pair 16*;
Cleft Palate;
Ear;
Female;
Hearing Loss, Bilateral;
Heart;
Humans;
Hypertelorism;
Infant, Newborn;
Kidney*;
Multicystic Dysplastic Kidney;
Muscle Hypotonia;
Survival Rate;
Thumb
- From:Journal of the Korean Society of Neonatology
2007;14(2):243-246
- CountryRepublic of Korea
- Language:Korean
-
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.
