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Case Report
A Case of Apert`s Syndrome(Acrocophalosyndactyly) with Fibroblast Growth Factor Receptor 2 Exon Ⅲa Mutation
Hyung Su K, Pyl Soon Yang, Jee Yeoun Kang, Ok Young Kim, Chul Hae Ku, Wha Mo Lee
Clin Exp Pediatr. 2000;43(7):1006-1011.   Published online July 15, 2000
Apert syndrome is an uncommon congenital disorder characterized by malformation of the skull in association with symmetrical syndactyly of both hands and feet. This syndrome is autosomal dominant. The original description was presented by Apert in 1906. Since then more than 200 cases have been reported in the world. Recently, we experienced a case of newhorn male infant with congenital...
Mauriac Syndrome in a Patient with Type I Diabetes Mellitus
Ji Yeoun Kang, Pil Soon Yang, Hyung Su Kim, Ok Young Kim, Chul Hoi Koo, Wha Mo Lee
Clin Exp Pediatr. 2000;43(6):837-841.   Published online June 15, 2000
Mauriac syndrome consists of a triad of poorly controlled diabetes, profound growth retardation and hepatomegaly. We experienced a case of Mauriac syndrome in an 18-year-old girl who had poorly controlled diabetes mellitus, short stature, hepatomegaly and central obesity. Also at the time of examination, she had complications of diabetic cataract and nephropathy. Fourteen years prior to admission, she was diagnosed...
A Case of Polyglandular Autoimmune Syndrome
Kyung Ah Choi, Ji Yeoun Kang, Chul Hoe Koo, Wha Mo Lee, Young Suk Jeon
Clin Exp Pediatr. 1998;41(9):1299-1303.   Published online September 15, 1998
When dysfunction of two or more endocrine glands occurs in association with circulating organ specific antibodies directed against the involved glands, the term polyglandular autoimmune(PGA) syndrome is applied. This syndrome is usually classified into three groups. The autoimmune nature of this disease has been based on the presence of lymphocytic infiltration of the affected glands, organ specific autoantibody in serum,...
A Case of Type A Niemann-Pick Disease
Eun Young Jeon, Kyung Ah Choi, Chul Hoe Koo, Wha Mo Lee, Young Suk Jeon, Chang Hun Lee, Kang Suek Suh, Sun Kyeung Lee
Clin Exp Pediatr. 1998;41(2):275-280.   Published online February 15, 1998
Niemann-Pick disease is a storage disease characterized by accumulation of sphingomyelin and other lipids, mainly in the reticuloendothelial system. We experienced a case of type A Niemann-Pick disease in a 18-month-old male infant. He showed dyspnea, marked hepatosplenomegaly and developmental retardation. Fundoscopic examination revealed cherry red spots in both macula. Bone marrow aspirates showed characteristic foam cells. Autopsy finding revealed...
Erratum
A Case Ileal Duplication with Intussusception
Gyoung Wha Choi, Gyoung Sun Kang, Byung Uk Park, Wha Mo Lee, Young Seak Jeen, Tae Won Lee
Accepted January 1, 1970  
The term "duplication" should be used when describing those spherical or tubular structures found along the alimentary tract whose walls contain well-devoloped muscular layers and whose lining is a mucosa similar to that of some part nf the alimentary tract. Symptoms produced by these lesions usually vary according to their location, their size, and the type of fluid secreted by their...
Original Article
A Case of Poland's Syndrome.
Seok Gyoung Kang, Joo Tae Choi, Wha Mo Lee, Young Seok Jeon
Clin Exp Pediatr. 1990;33(6):860-863.   Published online June 30, 1990
Poland’s syndrome is a congenital disorder associated with absence of the pectoralis muscle and ipsilateral defect of the upper extremity, usually syndactyly. The syndrome is not hereditary and is of unknown origin. It affects males more frequently than females. Recently, we experienced a 1 year old male, who had the absence of right pectoralis muscle and ipsilateral syndactyly with hypoplasia of fingers.
Clinical Survey of Very low Birth Weight Infant.
Seong Sook Jeon, Wha Mo Lee, Yang Sook Choi, Son Sang Seo
Clin Exp Pediatr. 1988;31(9):1120-1125.   Published online September 30, 1988
A clinical survey of Very Low Brith Weight Infant was done on 27,170 infants bom at II Sin Christian Hospital between Jan. 1 1983 and Dec. 31 1986. The results were as follows; 1) The incidence of VLBWI in the 27,170 births was 1.0%, and there was no annual variation. 2) Among 10,749 multiparaty there was a higher incidence of VLBWI (1.4%) compared to that in primiparity...
Three Cases of Spontaneous Neonatal Gastric Perforation.
Wha Mo Lee, Hye Jin Lim, Son Sang Seo, Jung Woo Yang
Clin Exp Pediatr. 1987;30(4):450-455.   Published online April 30, 1987
Three cases of spontaneous neonatal gastric perforation seen at II Sin Christian Hosp, between 1981 and 1985 were seen in all reported with brief literature review. Of the three cases, two occurred in males and one in female. One case was prematurity and other two cases were small for gestational age. All perforations occurred within first five days. Respiratory difficulty and abdominal distension with radiographic...
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