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A Case of 18p- Syndrome with Congenital Hypothyroidism.

Journal of the Korean Pediatric Society 1983;26(1):102-105.
Published online January 31, 1983.
A Case of 18p- Syndrome with Congenital Hypothyroidism.
Ji Young Kang, In Soon Lee, Woon Sik Kim
Department of :Pediatrics, In Cheon Gil Hospital
선천성 갑상선 기능 저하증을 동반한 18p-증후군 1례
강 지 영, 이 인 순, 김 운 식
인천 길병원 소아과
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.
Key Words: 46 XX, 18p- , congenital hypothyroidism.

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