Holoprosencephaly를 동반한 Patau 증후군 1례

• 영문명: A case of Patau Syndrome with Holoprosencephaly
• 발행기관: 대한소아신경학회
• 저자명: 박정금(Jung Keum Park) 황태규(Tae Gyu Hwang) 이순용(Soon Youg Lee)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제1권 제2호, 137~143쪽, 전체 7쪽
• 주제분류: 의약학 > 의학일반
• 파일형태: PDF
• 발행일자: 1993.12.20

영문 초록

We have experienced a case of Patau syndrome with holoprosencephaly in 1-day old female neonate, who suffered from apnea and facial anomalies. The family history was revealed that her brothers were delivered as the same anomalies and then died soon after birth. She had microcephaly, short neck and facial anomalies such as orbital hypotelorism, single nostril-nose, absence of philtrum and low set ear. The chromosomal study was revealed the extrachromosome D1 group(47, XX, ＋13) and the diagnosis of holoprosencephaly was confirmed by brain MRI, autopsy, which was compatible with alobar type of holoprosencephaly. A brief review of literatures was made.

키워드

Patau syndrome Holoprosencephaly Chromosomal study MRI