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Review Article
Genetics of kidney development: pathogenesis of renal anomalies
Hyewon Hahn
Clin Exp Pediatr. 2010;53(7):729-734.   Published online July 31, 2010

Congenital anomalies of the kidney and urinary tract (CAKUT) account for more than 50% of abdominal masses found in neonates and involve about 0.5% of all pregnancies. CAKUT has a major role in renal failure, and increasing evidence suggests that certain abnormalities predispose to the development of hypertension and cardiovascular disease in adulthood. To understand the pathogenesis of human renal...

Original Article
Incidence and outcome of congenital anomalies of the kidney and urinary tract detected by prenatal ultrasonography: a single center study
Gina Lim, Joo Hoon Lee, Young Seo Park, Kun Seok Kim, Hye-Sung Won
Clin Exp Pediatr. 2009;52(4):464-470.   Published online April 15, 2009
Purpose : This study assessed the incidence and outcome of congenital anomalies of the kidney and urinary tract (CAKUT) detected by prenatal ultrasonography Methods : There were 906 cases of CAKUT detected by prenatal ultrasonography and postnatally confirmed at the Asan Medical Center from October 1989 to October 2007. We investigated the incidence and outcome of these cases by reviewing medical...
Case Report
A Case of Ring Chromosome 21 with Multiple Congenital Anomalies
Jun-Hwa Lee, Eul-Ju Seo
Clin Exp Pediatr. 2003;46(3):291-294.   Published online March 15, 2003
Ring chromosome 21 causes a multitude of phenotypes, ranging from severe abnormalities to normal. The proposed mechanism of ring formation, breakage of both short and long arms of a chromosome with subsequent end to end fusion, remains unproven. We encountered a 4-year-old boy who presented developmental delay, microcephaly, micrognathia, hypertelorism, low-set ears, mild optic nerve hypoplasia, cleft lip and palate,...
A Case of Partial Trisomy 9 by Balanced Maternal Translocation
Mi Kyung Kim, Young Kyoo Shin, Baik Lin Eun, Sang Hee Park, Sun Hwa Park, Soon Hyuk Lee
Clin Exp Pediatr. 2000;43(5):700-703.   Published online May 15, 2000
Trisomy 9p syndrome was first described by Rethore et al in 1970 and about 100 cases have been reported since. The phenotypic spectrum of this syndrome is characterized by craniofacial malformation, facial deformity, skeletal and dermatoglyphic anomalies with variable degrees of mental retardation. We experienced a case of partial trisomy 9 syndrome in a 15-month-old female who had multiple congenital...
A Case of Trisomy 9 Syndrome
yu Sik Jeon, Heung Tak Kim, Soon Hee Jeong, Kyuchul Choeh
Clin Exp Pediatr. 1998;41(2):255-258.   Published online February 15, 1998
Since Feingold and his collegues first describes the trisomy 9 syndrome in 1973, approximately 30 patients with trisomy of the chromsome 9 have been described. Trisomy 9 has been reported as either partial or complete. Complete trisomy is rare and incompatible with a a long life. Before this report, this syndrome has not been reported in Korea. A neonate was diagniosed...
A Case of 3p Partial Trisomy
Jeong Eun Park, Il Soo Kim, Moo Young Song, Eun Ryoung Kim, Shin Young Moon, Sun Kyung Oh
Clin Exp Pediatr. 1996;39(6):873-880.   Published online June 15, 1996
3p partial trisomy is a rare chromosomal anomaly. We experienced a case of 3p partial trisomy in a male neonate. It was diagnosed by clinical and chromosoaml study. He had multiple anomalies such as brachycephaly, wide open fontanelle, square face, hypertelorism, mongoloid palpebral fissure, micrognathia, low set malformed ear, bilateral cleft lip and palate, double outlet right ventricle, atrial septal defect,...
Original Article
A Case of Dandy-Walker Syndrome Associated with Multiple Congenital Anomalies.
Gye Weon Shin, Chul Ho Lee, Bo Kyung Cho, Chung Sik Chun, Sung Hun Cho
Clin Exp Pediatr. 1990;33(6):848-853.   Published online June 30, 1990
The Dandy-Walker Syndrome is a developmental disorders of the brain characterized by cystic deformity of fourth ventricle, agenesis or hypoplasia of the cerebellar vermis, and hydrocephalus. This syndrome is frequently associated with central nervous system malformation and systemic anomalies. We experienced a case in a 2-day-old female who has multiple congenital anomalies. On physical examinations, macrocephaly with prominent occiput, encephalocele in the occipital area, microphth- almia,...
Case Report
A Case of Omphalocele Associated with Multiple Congenital Anomalies.
Yoon Ja Kim, Soo Kyung Jeong, Nam Ji Cho, Jae Keum Ji
Clin Exp Pediatr. 1983;26(1):66-70.   Published online January 31, 1983
A omphalocele associated with multiple congenital anomalies is extremely rare congenital malformation. We experienced a ruptured large omphalocele of short duration associated with multiple congenital anomalies such as patent omphalomesenteric duct, cleft palate and lip, postaxial polydactylia with dystrophic nails on both hands and leftfoot, adrenal heterotophia in left peritesticular region, pancreatic heterotophia in perisplenic lymphnode, nodular excrescene of spleen, and...
Fanconi Anemia.
Sang Il Lee, Young Yul Koh, Jung Gi Suh, Hyo Seop Ahn, Chang Yee Hong
Clin Exp Pediatr. 1981;24(2):153-163.   Published online February 15, 1981
Five cases of Fanconi anemia were observed during these 7 *years. It acounts for about 6.7% of the total 75 aplastic anemia seen during those same period in SNUH. Three were boys and two were girls. The initial symptom was nasal bleeding or pallor which observed between the age of 2 years and 6 years. They all revealed growth retardation...