International Journal For Multidisciplinary Research

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Foetal Brain Malformation associated with Compound Heterozygous LAMB1 Variants: Case Report of Dandy Walker Syndrome

Author(s) Ms. Priya Singh, Ms. Astha Pandey
Country India
Abstract Dandy Walker malformation (DWM) is a complex malformation involving the posterior fossa and cerebellum. Aim of this study represents chronic disorder DWM, is a rare condition with an estimated incidence of 1 in 350,000 live births in the united state. Hydrocephaly, a common finding, is seen in approximately 80% of cases. DWM is present in 4% to 12% of cases of hydrocephaly in infants. DWS is more frequent cerebral malformation where hypoplasia and upward rotation of the vermis cerebelli, occipital encephalocele a cystic enlargement of fourth ventricle and in total enlarged posterior fossa. LAMB1 mutations are linked to lissencephaly 5 a severe neurodevelopmental defects and congenital brain defects. In Whole-exome sequencing we identified two likely compound heterozygous variants of LAMB1 gene that are c.5225-8_5230del location intron 33-exon 34 and c.1364G>A; (p. Cys455Tyr) location exon 11, both classified as VUS but predicted to be detrimental. The phenotype overlaps with known LAMB1-related malformations, suggesting a potential pathogenic association. This case emphasizes the utility of prenatal WES and expands the clinical spectrum of LAMB1 variants. It this report a fetus with severe posterior fossa malformations, including cerebellar vermis hypoplasia, enlarged cisterna magna, and a small occipital encephalocele detected on prenatal ultrasound.
Keywords Dandy Walker Malformation, Whole-Exome Sequencing (WES), LAMB1 Gene
Field Biology > Genetics / Molecular
Published In Volume 7, Issue 6, November-December 2025
Published On 2025-12-28
DOI https://doi.org/10.36948/ijfmr.2025.v07i06.64808
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