We have located links that may give you full text access.
Pre- and Postnatal Characterization of Autosomal Recessive KIDINS220 -Associated Ventriculomegaly.
Molecular Syndromology 2022 December
INTRODUCTION: Heterozygous loss-of-function variants in the last 2 exons of KIDINS220 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 KIDINS220 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 KIDINS220.
DISCUSSION: To our knowledge, this is the first living individual reported with the autosomal recessive form of a KIDINS220 -associated condition. This case provides additional information about the postnatal phenotype and a detailed history of development from prenatal ultrasonography.
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 KIDINS220.
DISCUSSION: To our knowledge, this is the first living individual reported with the autosomal recessive form of a KIDINS220 -associated condition. This case provides additional information about the postnatal phenotype and a detailed history of development from prenatal ultrasonography.
Full text links
Related Resources
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app