- Original Article
- 11 q Deletion Syndrome.
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Y B Im, S B Park, B Y Pyun, J O Park, S J Lee, S Y Moon
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Clin Exp Pediatr. 1989;32(2):239-243. Published online February 28, 1989
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llq deletion syndrome is a rare chromosomal anomaly.
The authors experienced a case of llq deletion syndrome with congenital glaucoma and infantile
spasm in a female child. She showed delayed psychomotor development, flat occiput, hypertelorism,
low set malformed ears, flat nasal bridge, short neck, simian line on right palm and throm.
bocytopenia.
Chromosomal study showed the deletion of the long arm of chromosme 11, karyotypically... |
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- Case Report
- A Case of Chronic Granulomatous Disease.
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C H Park, M R Roh, S C Park, J O Park, D H Lee, S J Lee
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Clin Exp Pediatr. 1984;27(11):1141-1146. Published online November 30, 1984
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Chronic granulomatous disease is characterized by an inability of patients* leukocytes to
generate hydrogen peroxide and to kill non-peroxide forming bacteria, such as staphylococci,
E. coli and serratiae etc.
We experienced a case of chronic granulomatous disease with recurrent pyogenic infection.
It was diagnosed by clinical findings and laboratory examinations including NBT test. Clin-
ical findings showed persistent diarrhea since birth, recurrent bacterial pneumonia, perianal
abscess,... |
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- A Case of Osteopetrosis.
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C H Park, J H Yoo, T K Yoon, J O Park, S J Lee
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Clin Exp Pediatr. 1983;26(12):1203-1208. Published online December 31, 1983
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Osteopetrosis is a rare disease causing an abnormal sclerosis of bone.
We experienced a case of osteopetrosis with rachitic-like changes which was diagnosed by
clinical features, radiologic examinations and laboratory examinations. Radiologic examinations showed generalized sclerosis, dense orbital roof, thick & dense skull base, anterior notching “sandwich” appearance of the vertebrae, club shaped long bone, and bone within bone appearance in metacarpals.... |
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