A Case of Chromosome 16 Disorder with Unilateral Multicystic Displastic Kidney
Journal of the Korean Society of Neonatology
;
: 243-246, 2007.
Article
in Korean
| WPRIM
| ID: wpr-148549
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Thumb
/
Chromosomes, Human, Pair 16
/
Survival Rate
/
Cleft Palate
/
Multicystic Dysplastic Kidney
/
Ear
/
Hearing Loss, Bilateral
/
Heart
/
Hypertelorism
/
Kidney
Limits:
Female
/
Humans
/
Infant, Newborn
Language:
Korean
Journal:
Journal of the Korean Society of Neonatology
Year:
2007
Type:
Article
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