| A Case of Holoprosencephaly. |
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Byung Chun Suh1, Soon Sup Jang1, In Joon Seol1, Soo Jee Moon1, Chong Moo Park1, Seok Chol Jeon2 |
1Department of Pediatrics, College of Medicine, Hanyang University, Seoul, Korea
2Department of Radiology, College of Medicine, Hanyang University, Seoul, Korea |
| Holoprosencephaly 1례 |
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서병천1, 장순섭1, 설인준1, 문수지1, 박종무1, 전석철2 |
1한양대학교 의과대학 소아과학교실
2한양대학교 의과대학 방사선학교실 |
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| Abstract |
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We experienced a case of holoprosencephaly with extracranial abnormalities, including orbital
hypotelorism, median cleft lip without philtrum, flat nasal bridge, flat face, and microcephaly and
with a karyotype, 46 XX, 22p+.
The diagnosis was confirmed by brain CT scan & brain ultrasonography, and the findings were
compatible with an alobar type of holoprosencephaly. The patients died at 26 days of age.
A brief review of the literature concerning holoprosencephaly is also presented.
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| Key Words:
H oloprosencephaly
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