Foetal brain malformation associated with compound heterozygous LAMB1 variants: Case report of Dandy walker syndrome

This is a preprint and has not been peer reviewed. Data may be preliminary. Foetal brain malformation associated with compound heterozygous LAMB1 variants: Case report of Dandy walker syndrome 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. We report a foetus with severe posterior fossa malformations, including cerebellar vermis hypoplasia, enlarged cisterna magna, and a small occipital encephalocele detected on prenatal ultrasound. Supplementary Material File (foetal brain malformation- final case report of dandy walker syndrome.docx) - Download - 1.24 MB Information & Authors Information Version history Peer review timeline Published International Journal For Multidisciplinary Research Version of Record28 Dec 2025Published Copyright This work is licensed under a Non Exclusive No Reuse License. Authors Metrics & Citations Metrics Article Usage 117views 50downloads Citations Download citation Priya Singh, Astha Pandey, Priyanshi Srivastava. Foetal brain malformation associated with compound heterozygous LAMB1 variants: Case report of Dandy walker syndrome. Authorea. 19 December 2025. DOI: https://doi.org/10.22541/au.176613489.99411528/v1 DOI: https://doi.org/10.22541/au.176613489.99411528/v1 If you have the appropriate software installed, you can download article citation data to the citation manager of your choice. Simply select your manager software from the list below and click Download. For more information or tips please see 'Downloading to a citation manager' in the Help menu.