Introduction: Heterozygous loss-of-function variants in the last 2 exons of have been associated with spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO). Syndromic features of this condition include macrocephaly and dilatation of the lateral ventricles. Homozygous variants in the more proximal exons of have been reported in several fetuses with a similar but more severe phenotype of limb contractures and severe ventriculomegaly identified in the second trimester of pregnancy.
Case Presentation: We present here a 2.5-year-old female with profound global developmental delays and spasticity who was found by fetal ultrasound in week 19 of gestation to have bilateral talipes equinovarus and severe bilateral ventriculomegaly. Postnatal genetic testing revealed biallelic variants in
Discussion: To our knowledge, this is the first living individual reported with the autosomal recessive form of a -associated condition. This case provides additional information about the postnatal phenotype and a detailed history of development from prenatal ultrasonography.
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| http://dx.doi.org/10.1159/000522486 | DOI Listing |
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