Prenatal Detection of <i>TGFBR1</i> Variant Associated With Severe Ventriculomegaly and Loeys–Dietz Syndrome
This case expands the prenatal phenotype associated with Loeys-Dietz Syndrome type 1, demonstrating that severe ventriculomegaly and macrocephaly may be early markers of disease. Early identification of LDS1 through advanced prenatal imaging and genetic testing may support anticipatory guidance and multidisciplinary care planning.
Authors
- Brianna Murphy
- Neeta L. Vora (ORCID: https://orcid.org/0000-0002-2504-9455)
- Morrison Hodges (ORCID: https://orcid.org/0009-0004-0499-1427)
- Kelly L. Gilmore (ORCID: https://orcid.org/0000-0002-9125-8714)
- Sarah Harris (ORCID: https://orcid.org/0000-0001-6885-4609)
Institutions
- University of North Carolina at Chapel Hill (US)
- Wake Forest University (US)
Publication Details
- Journal
- Prenatal Diagnosis
- Published
- 2025-05-05
- DOI
- https://doi.org/10.1002/pd.6811
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Institutes of Health
- University of North Carolina at Chapel Hill
- National Institute of Child Health and Human Development