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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Prenatal Presentation of Baraitser-Winter Syndrome ...
Prenatal Presentation of Baraitser-Winter Syndrome: A New Lymphatic Multiple Congenital Anomaly Syndrome
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Pdf Summary
Baraitser-Winter Syndrome (Cerebrofrontofacial Syndrome) is a congenital anomaly condition caused by specific genetic variants in the ACTB or ACTG1 genes. It is characterized by distinctive facial features, developmental delays, intellectual disabilities, microcephaly, epilepsy, cleft lip and palate, joint contractures, muscle wasting, vision and hearing differences, cardiac defects, renal anomalies, and gastrointestinal issues. While prenatal cases of this syndrome are rare, exome and genome sequencing can help with early diagnosis and management decisions.<br /><br />In this case report, a 25-year-old pregnant woman with suspected left pleural effusion underwent genetic counseling. It was discovered that the father of the baby had a diagnosis of spherocytosis, a condition that can cause fetal hydrops and anemia. The ultrasound revealed a large left pleural effusion, trace right pleural effusion, and trace ascites, as well as other findings like a horseshoe kidney and a thickened nuchal fold. Amniocentesis with Whole Genome Sequencing identified a pathogenic variant in the ACTB gene, confirming a diagnosis of Baraitser-Winter Syndrome. Another pathogenic variant in the SPTA1 gene was also identified, indicating that the fetus is an unaffected carrier of spherocytosis.<br /><br />This case highlights the importance of genetic testing, specifically exome and genome sequencing, in prenatal diagnosis and management of fetal anomalies. By expanding the phenotype of postnatally-described syndromes, earlier diagnosis and appropriate decision-making during pregnancy become possible.
Asset Subtitle
Co-Author - Natalie Burrill, MS, LCGC; Co-Author - Nahla Khalek, MD, MPH, MS; Co-Author - Edward R. Oliver, MD, PhD; Presenting Author - Renee DiCicco, MS, LCGC; Co-Author - Julie Moldenhauer, MD, FACOG, FACMG;
Meta Tag
Cognitive Disorders
Congenital Anomaly
Genome sequencing
Phenotype
Prenatal Diagnosis
Risk Assessment
Ultrasound
Co-Author
Natalie Burrill, MS, LCGC
Co-Author
Nahla Khalek, MD, MPH, MS
Co-Author
Edward R. Oliver, MD, PhD
Co-Author
Julie Moldenhauer, MD, FACOG, FACMG
Presenting Author
Renee DiCicco, MS, LCGC
Keywords
Baraitser-Winter Syndrome
Cerebrofrontofacial Syndrome
congenital anomaly
genetic variants
ACTB gene
developmental delays
intellectual disabilities
microcephaly
epilepsy
cleft lip and palate
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