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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.

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