- Case Report
- Two Cases of Gaucher's Disease in Brothers.
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Jeong Sick Min, Il Whan Kim, Dae Young Hwang, Hyun Gi Jeong, Jae Sun Park, In Sun Jun, Man Ha Huh
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Clin Exp Pediatr. 1984;27(6):628-634. Published online June 30, 1984
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We experienced 2 cases of Gaucher' s disease of adult type in brothers when their ages were 4 year 1 month and 3 year 10 month respectively. They showed remarkable hepatosplenomegaly with mild hematologic complications and characteristic histiocytoid cells in the spleen and liver biopsies. Splenectomy was followed by improvement of anemia and labored respiration in both patients. In case... |
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- A Case of Cornelia De Large Syndrome.
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Do Seung Lee, Dae Young Hwang, Jeong Sick Min, Jae Sun Park
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Clin Exp Pediatr. 1983;26(6):616-621. Published online June 30, 1983
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We have experienced a case of1 Cornelia de Lange Syndrome in a male infant. At first visit,
the patient showed typical appearance of microcephaly, cleft palate, generalized hirsutism
and growth retardation due to poor sucking since birth.
The face of the patient was characterized by micrognathia, antirrongolism slant of eyes,
synorphys of eye brows, bushy forehead and bushy lateral aspect of both cheeks, all... |
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- A Case of Klippel-Trenaunary-Weber Syndrome.
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Do Seung Lee, Dae Yong Hwang, Jeong Sick Min, Jae Sun Park
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Clin Exp Pediatr. 1983;26(5):516-520. Published online May 31, 1983
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We report a case of Klippel-Trenaunay-Weber Syndrome in a 12 years old boy who had
large port-wine hemangioma, soft tissue & bony hypertrophy and varicose veins on the lower
leg. On the skin lesion, there are several black papules & crops of skin colored eruptions which
were found out microscopically to be intraepidermal bleeding focuses & harmatomatous
change of squamous cells into sebaceous cells... |
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