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Case Report
A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene
Min Young Lee, Ga Won Jeon, Ji Mi Jung, Jong Beom Sin
Clin Exp Pediatr. 2010;53(7):774-777.   Published online July 31, 2010

Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia, and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1:100,000 live births. Clinical manifestations and molecular genetic testing are important to confirm the diagnosis. Mutations of the fibroblast growth factor receptor 1 (FGFR1) gene or FGFR2 gene can cause Pfeiffer syndrome....

Original Article
Conjoined Thoracopagus Twins.
Min Young Lee, Young Yoo, Ji Tae Choung, Joo Won Lee, Young Chang Tockgo, Yang Seouk Chae
Clin Exp Pediatr. 1990;33(5):671-674.   Published online May 31, 1990
Conjoined twins are very rare congenital malformation in which twins have varying degree of anatomical union. The conjoined twins seems preferable to such as craniopagus, thoracopagus, ischiopagus and pyopagus. Because of their associated anomalies, particularly of cardiovascular system, and difficulties in delivery, they usually survive only short postnatal period. Successful surgical separation and long term survival would have been achieved in a small numbers...
A clinicostatistical Study of Congenital Intestinal Obstruction.
Min Young Lee, Young Sook Hong, Se Jin Kang, Soon Kyum Kim, Pyung Hwa Choe
Clin Exp Pediatr. 1990;33(4):456-462.   Published online April 30, 1990
A clinicostatistical assessment of the 134 patients with congenital intestinal obstruction who were admitted to the department of pediatrics and pediatric surgery. Korea university medical center from Feb. 1979 to June. 1988 was performed. The results were as follows. 1) Congenital hypertrophic pyloric stenosis (43 cases) was the' most common congenital intestinal obstruc- tion, and congenital megacolon (24 cases), imperforate anus (23 cases), omphalocele (11 cases),...
A case of Evans Syndrome Associated with A-V Malformation.
Keun Haeng Cho, Min Young Lee, Kwang Chul Lee, Young Sook Hong, Soon Kyum Kim
Clin Exp Pediatr. 1989;32(6):839-844.   Published online June 30, 1989
In 1951, Evans and associates first described a group of patients with primary thrombocytopenic purpura for a diagnosis of Evans syndrome, The criteria for a diagnosis of Evans syndrome were(l) hemolytic anemia with a positive direct coombs’ test and thrombocytopenia occuring either simultaneously or in succession and(2) the absence of any known underlying etiology. We experienced a case of Evans syndrome associated with...
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