A Case of Holoprosencephaly, Alobar Type |
Kyu Sun CHoi, Kang Seo Park, Young Tack Jang, Wan Seob Kim |
Department of Pediatircs, Presbyterian Medical Center, Jeonju, Korea |
Alobar Type Holoprosencephaly 1례 |
최규선, 박강서, 장영택, 김완섭 |
전주예수병원 소아과 |
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Abstract |
A case of Holoprosencephaly, alobar type , was presented here and 13-month follow-up has been made. He had dyspnea, polikilothermia, frequent atypical seizures, hypernatremia & pitressinresponsive Diabetes insipidus as clinical manifeststions. Chromosome studies showed normal male karyotype (46XY). The diagnosis was confirmed by brain CT scan. A brief review of the related literature was made. |
Key Words:
Holoprosencephaly, Alobar type, Pitressine-responsive, Diabetes insipidus |
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