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Case Report
A Case of Hypoglossia-Hypodactylia with t(3q;19p)
Hei-Won Hwang, Ji-Sun Mok, Ji-Eun Kim, Dong-Suk Lee, Doo-Kwun Kim, Sung-Min Choi, Woo-Taek Kim
Clin Exp Pediatr. 2001;44(11):1311-1315.   Published online November 15, 2001
Hypoglossia-hypodactylia syndrome is a congenital disease which is characterized by severe micrognathia, hypoglossia and various anomalies of extremities. This was first reported as 'aglossia congenita' back in 1932 by Rosenthal, and has been reported many times ever since, but has never been reported in Korea. Hall first used the term 'hypoglossia-hypodactylia syndrome', and classified it as one of the oromandibular-limb...
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...
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