| A Case of 18p- Syndrome with Congenital Hypothyroidism. |
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Ji Young Kang, In Soon Lee, Woon Sik Kim |
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Department of :Pediatrics, In Cheon Gil Hospital |
| 선천성 갑상선 기능 저하증을 동반한 18p-증후군 1례 |
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강 지 영, 이 인 순, 김 운 식 |
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인천 길병원 소아과 |
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| Abstract |
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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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