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Original Article
A Case of 18P-Syndrome with Frequent Intection.
Ellen A Kim, Jong Sung Eum, Hee Ju Kim, Sung Ill Ahn, Kyung Yu Park
Clin Exp Pediatr. 1988;31(3):370-374.   Published online March 31, 1988
We herein reported a case of newborn with round face, low nasal bridge, micrognathia, down turning comers of mouth, large protruding ears, high arched palate with webbed short neck: This odd looking newborn was confirmed to have deltion of short arm of chromosome 18 (18P- syndrome). Frequent episodes of pneumonia developed until recently at 6 months of age. The cause of this frequent infection...
Case Report
A Case of 18p- Syndrome with Congenital Hypothyroidism.
Ji Young Kang, In Soon Lee, Woon Sik Kim
Clin Exp Pediatr. 1983;26(1):102-105.   Published online January 31, 1983
We have experienced a case of 18p- syndrome with congenital hypothyroidism in a 16-month-old girl who had microcephaly, flat nasal bridge, failure to thrive, left inguinal hernia and umbilical hernia. The diagnosis was confirmed by physical findings, cytogenetic study, thyroid function test and thyroid scanning. The review of the related literature was made briefly.
A Case of 18p- Syndrome.
Jin Tae Kim, Byoung Soo Cho, Chang Hyo Lee, Chang Il Ahn, Kap Soon Ju
Clin Exp Pediatr. 1981;24(6):589-591.   Published online June 15, 1981
We have experienced a case of 18p- syndrome in 22 month old girl who had craniofacial anomaly such as microcephaly, hypertelorism, nystagmus, depressed nasal bridge, complete bilateral cleft palate, both ear canal stenosis and mental retardation. Chromosome culture revealed short arm deletion of chromosome 18 in E group. As far as we know, this case is the first report of...