Journal of the Korean Pediatric Society 1987;30(6):695-700.
Published online June 30, 1987.
A Case of Holoprosencephaly.
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
서병천1, 장순섭1, 설인준1, 문수지1, 박종무1, 전석철2
1한양대학교 의과대학 소아과학교실
2한양대학교 의과대학 방사선학교실
Abstract
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.
Key Words: H oloprosencephaly




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