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Case Report
A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea
Joo Hyun Cho, Eun Song Song, Hee Na Kim, Burm Seok Oh, Young Youn Choi
Clin Exp Pediatr. 2014;57(6):292-296.   Published online June 30, 2014

The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently...

Original Article
A case of atypical neurofibromatosis type 1.
Eun Joo Choi, Young Hyuk Lee, Min Hee Kim, Kyo Sun Kim
Clin Exp Pediatr. 1991;34(7):1034-1039.   Published online July 31, 1991
Almost of all patients with neurofibromatosis type I show caf6-au-lait macules on their skin. These macules are thought to be early sign of neurofibromatosis in childhood. We experienced a case of neurofibromatosis type I in a 10-year-old-boy who did not have caf6-au-lait macules, but progressive psychomotor retardation, short attention span, hyperactivity and megalencephaly. The brain C-T findings showed diffuse cerebromalacia and ventriculomegaly. We confirmed the...