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Objective
The purpose of this study was to elucidate the facial morphology and the pattern of internal malformations in three fetuses with RS born to first cousins of Egyptian decent.
Methods
The fetal ultrasonography findings were highly suggestive of RS leading to targeted Sanger sequencing of FAM20C and postnatal assessment.
Results
The prenatal ultrasound findings of osteosclerotic skull,...
Objective
The objective of this study is to evaluate the prenatal diagnosis, postnatal characteristics, and the spectrum of associated findings in fetuses with holoprosencephaly (HPE).
Methods
Fetal neurosonograms, postnatal assessment, and chromosomal analysis were performed in a cohort of 25 fetuses with HPE.
Results
The prevalence of HPE in high‐risk pregnancies was 4.4:10 000. The alobar...
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