Demonstration of holoprosencephaly, proboscis and cyclopia in fetus without aneuploidy, but high level of homozygosity

Prenat Diagn. 2021 Aug;41(9):1179-1180. doi: 10.1002/pd.6001.

Authors

Lucian G Pop¹, Viorica Radoi², Peter Sipos³

Affiliations

¹ Department of Obstetrics and Gynecology, Institutul Pentru Ocrotire Mamei si Copilului Alfred Rusescu, Bucharest, Romania.
² Department of Genetics, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
³ Department of Obstetrics and Gynecology, Cayman Islands Health Services Authority, Grand Cayman, Cayman Islands.

PMID: 34390260
DOI: 10.1002/pd.6001

No abstract available

MeSH terms

Adult
Face / abnormalities
Face / physiopathology
Female
Holoprosencephaly / diagnosis*
Holoprosencephaly / physiopathology
Homozygote*
Humans
Pregnancy

Supplementary concepts

cyclopia sequence