Holoprosencephaly를 동반한 Patau 증후군 1례

A case of Patau Syndrome with Holoprosencephaly

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.