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Original Article
Longterm Follow-up of Autosomal Recessive Polycystic Kidney Disease
June Huh, Il Soo Ha, Hae Il Cheong, Jeong Kee Seo, Yong Choi
Clin Exp Pediatr. 1998;41(12):1693-1699.   Published online December 15, 1998
Purpose : This study was aimed to assess the clinical manifestations and courses of autosomal recessive polycystic kidney disease(ARPKD). Methods : The medical records of 10 children diagnosed as infantile or juvenile ARPKD at Seoul National University Children's Hospital between January, 1984 and December, 1996, were reviewed, retrospectively. Results : The average age at diagnosis was 3 8/12 years(4months-7 3/12 years)...
Case Report
Arthrogryposis Multiplex Congenita in Siblings
Kyoung Hee Choi, Jeong Ah Park, Kyoung Sim Kim, Ki Bok Kim
Clin Exp Pediatr. 1995;38(9):1293-1298.   Published online September 15, 1995
Arthrogryposis multiplex congenita is a rare congenital disorder characterized by multiple fixed-joint deformities of the upper and lower extremities. Most cases are sporadic, although rare cases of familial recurrence are reported worldwide. Recently, we experienced 2 cases of arthrogryposis multiplex congenita in a family (a brother and a sister). They were born with micrognathia, low set ears, broad and short...
A Case of the Dubowitz Syndrome.
Kyung Ae Lee, Chi Ho Yun, Jae Sun Jung, Hee Ju Kim, Sung Ill Ahn, Hyung Ro Moon
Clin Exp Pediatr. 1986;29(4):436-440.   Published online April 30, 1986
The Dubowitz syndrome is an autosomal recessive condition characterized by intrauterine growth retardation, postnanal growth retardation, peculiar facial appearance, short stature, low birth weight, microcephaly and borderline intelligence or mild mental retardation. We reported a typical case of the Dubowitz syndrome in a full term male infant together with a brief review of pertinent literatures since the incidence of the...
Three Cases of Glanzmann's Thrombasthenia.
Sung In Baek, Myung Chul Hyun, Haeng Mi Kim, Kun Soo Lee, Doo Hong Ahn, Hyo Jin Chun, Jay Sik Kim
Clin Exp Pediatr. 1985;28(11):1153-1157.   Published online November 30, 1985
We experienced 3 cases of Glanzmann' s thrombasthenia of 2 year-old boy, 4 year-old boy, and 5 year-old girlt who represented with frequent epistaxis and petechia. The later two of them are brother and sister.Laboratory findings were characterized by normal platelet counts, markedly diminished clot retraction, prolonged bleeding time, positive Rumpel-Leede test, abnormal platelet adhesion to glass, and complete failure...
Two Cases of the Rud Syndrome in Siblings.
Mi Jeong Lee, Myung Geul Yum, Jung Hwan Choi, Chong Ku Yoon, Hyung Ro Moon
Clin Exp Pediatr. 1985;28(6):610-615.   Published online June 30, 1985
The Rud syndrome, which is characterized by ichthyosis, mental retardation, seizure, dwarfism, sexual infantilism, etc., was described by Rud in 1927 at first. It is hereditary disorder whose mode of inheritance is autosomal recessive. Because the incidence of this syndrome is very rare, the Rud syndrome has not been reported till now in Korea. We experienced two cases of the...