Holoprosencephaly

Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.

Cyanosis

Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.


合計: 1

                       


（表示件数）
PMID (PMCID)
30024536
(6086508)
 FEMALE Infant, Newborn
Alobar holoprosencephaly associated with a rare chromosomal abnormality: Case report and literature review.
Ionescu CA, Calin D, Navolan D, Matei A, Dimitriu M, Herghelegiu C, Ples L.
Medicine (Baltimore). 2018;97(29):e11521.
After birth, the diagnosis of the fetus confirmed holoprosencephaly with facial anomalies and demonstrated repeated tonic-clonic seizure, severe respiratory failure, cyanosis, decreased muscle tone, palor, and apnea.