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Original Article
Transforming growth factor beta receptor II polymorphisms are associated with Kawasaki disease
Yu Mi Choi, Kye Sik Shim, Kyung Lim Yoon, Mi Young Han, Sung Ho Cha, Su Kang Kim, Joo Ho Jung
Clin Exp Pediatr. 2012;55(1):18-23.   Published online January 31, 2012
Purpose

Transforming growth factor beta receptor 2 (TGFBR2) is a tumor suppressor gene that plays a role in the differentiation of striated cells and remodeling of coronary arteries. Single nucleotide polymorphisms (SNPs) of this gene are associated with Marfan syndrome and sudden death in patients with coronary artery disease. Cardiovascular remodeling and T cell activation of TGFBR2 gene suggest that the...

Case Report
A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene
Jung Sook Ha, Yeo Hyang Kim
Clin Exp Pediatr. 2011;54(6):272-275.   Published online June 30, 2011

A recently recognized connective tissue disorder, Loeys-Dietz syndrome (LDS) is a genetic aortic aneurysm syndrome caused by mutations in the transforming growth factor-receptor type I or II gene (TGFBR1 or TGFBR2). They have distinctive phenotypic abnormalities including widely spaced eyes (hypertelorism), bifid uvula or cleft palate, and arterial tortuosity with aortic aneurysm or dissection throughout the arterial tree. LDS is...

Original Article
The Prevalence of Maturity Onset Diabetes of the Young(MODY) 3 in Children with Type 2 Diabetes Mellitus
In Kyoung Choi, Duk Hee Kim, Ho-Seong Kim, Nam Huh, Sang Hyun Paek, Seoung Young Jung
Clin Exp Pediatr. 2004;47(6):641-646.   Published online June 15, 2004
Purpose : Maturity-onset diabetes of the young(MODY) is a subtype of type 2 diabetes defined by autosomal dominant mode of inheritance, onset of diabetes usually before the age of 25 yrs, and a primary defect in the function of the beta cells of the pancreas. MODY3 is known as the most common form and is caused by mutations in hepatocyte...
Case Report
A Case of Hereditary Motor and Sensory Neuropathy Type III
Su Hyun Cho, Soo-Jin Kim, Young-Hoon Kim, Yun Tae Kim, Yoon-Kyung Lee, Dong-Un Kim, Seung-Hoon Han, Seung-Yun Chung, In-Goo Lee, Kyung-Tai Whang, Je Geun Chi
Clin Exp Pediatr. 2001;44(9):1057-1061.   Published online September 15, 2001
Hereditary motor and sensory neuropathy type III, which is also known as Dejerine-Sottas disease, is a severe demyelinating polyneuropathy which presents from birth or infancy, and is sometimes presented as a hypotonic or floppy infant. The disease is inherited autosomal recessively and includes clinical findings of generalized muscle weakness and atrophy, with the greatest severity in distal limb muscles, areflexia, and sensory loss. The...
Acanthosis Nigricans and TypeII Diabetes in Childhood
In Na Jeong, Hyung Ro Moon
Clin Exp Pediatr. 1996;39(3):404-410.   Published online March 15, 1996
The authors report two cases of type II diabetes with and without a acanthosis nigricans in children and a case of obese child with acanthosis nigricans encountered at Seoul Eul Ji Hospital in 1994 with review of literatures on relationship of obesity, acanthosis nigricans and type II diabetes. In case 1, 14-year old girl, BMI was 24 (weight, 63.5Kg ; height,...
Laryngotracheoesophageal Cleft Type III A Report of 1 Case
Myung Su Lee, Young Eun Lee, Eun Ae Park, Gyoung Hee Kim, Eun Chul Chung, Hac Soo Gyu
Clin Exp Pediatr. 1995;38(5):719-724.   Published online May 15, 1995
Laryngotracheoesophageal cleft is rare congenital anomaly due to failure of fusion of the e sophagus and the larynx. We experienced 1 case of larygotracheoesophageal cleft type III in neonate which was confirmed by autopsy. One day of age male newborn infant with grunting, retraction, and copious secretion canofirm diagnosis as laryngotracheoesophageal cleft type Ill by several radiographic studies and sutopsy. Brief review and...
Two Cases of Arnold-Chiari Malformation type II
Woo-Ki Lee, Hyui-Sung Chang, Seok-Kyu Lee, Ewng-Won Park, Kwang-Woo Kim
Clin Exp Pediatr. 1993;36(2):287-291.   Published online February 15, 1993
Arnold-Chirai malformation type II is congenital disorder which consists of downward displacement into upper cervical spinal canal of parts of the cerebellum, 4th ventricle, and medulla oblongata. We experienced two cases of Arnold-Chiari malformation with lumbar meningomyelocele, hydrocephalus. We confirmed the cases by brain C-T and report with brieft review of the lilterature.
Original Article
2 cases of I-cell disease.
H D Lee, K H Kim, Y T Lim, W T Kim, S Y Kim, H J Jeon, H J Park, C Y Kim
Clin Exp Pediatr. 1990;33(3):360-366.   Published online March 31, 1990
Clinical pictures of 2 cases with I-cell disease patients, 8 and 11 months old female, were analyzed. Characteristic coarse facial features, gum hypertrophy, retarded growth and dysostosis multiplex were observed in both cases. Under phase contrast microscopic examination, cultured fibroblasts of skin of case I patient had their cytoplasm filled with numerous dark granules leaving only a juxtanuclear crescent free of inclusions. We report...
Case Report
A Case of Glycogen Storage Disease Type IIa.
Dong Hyung Choo, Dong Kyoon Kim, Hyung Ro Moon, Choong Kon Kim
Clin Exp Pediatr. 1984;27(6):621-627.   Published online June 30, 1984
Glycogen storage disease type Ha(GSD la), also known as generalized glycogenosis, cardiomegalic glycogenosis, and Pompe disease, is a very rare form of glycogenosis. The authors reported a case of GSD J a in an eight months old girl who presented with respiratory problems, marked hypotonia, cardiomegaly, and macroglossia. The diagnosis was made on clinical grounds including pathologic findings of muscle...
A Case of Osteogenesis Imperfecta Type II.
Chang Ick Lee, Young Ai Kim, Jung Joo Kim, Dong Hak Shin
Clin Exp Pediatr. 1984;27(1):93-97.   Published online January 31, 1984
Osteogenesis, imperfecta is an inherited disorder of connective tissue characterized by multiple fractures, blue sclerae, progressive deafness, loose jointedness, and skin. We experienced a case of Type I osteogenesis imperfecta in a 2 months old male infant who visited our hospital with chief complaints of generalized growth retardation, blue sclera and frequent fractures and deformities of limbs. With typical manifestation...