Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype

American Journal of Medical Genetics. Part a
Ghada Abdel-SalamKhaled R Gaber

Abstract

The term fetal brain disruption sequence (FBDS) was coined to describe a number of sporadic conditions caused by numerous external disruptive events presenting with variable imaging findings. However, rare familial occurrences have been reported. We describe five patients (two sib pairs and one sporadic) with congenital severe microcephaly, seizures, and profound intellectual disability. Brain magnetic resonance imaging (MRI) revealed unique and uniform picture of underdeveloped cerebral hemispheres with increased extraxial CSF, abnormal gyral pattern (polymicrogyria-like lesions in two sibs and lissencephaly in the others), loss of white matter, dysplastic ventricles, hypogenesis of corpus callosum, and hypoplasia of the brainstem, but hypoplastic cerebellum in one. Fetal magnetic resonance imaging (FMRI) of two patients showed the same developmental brain malformations in utero. These imaging findings are in accordance with arrested brain development rather than disruption. Molecular analysis excluded mutations in potentially related genes such as NDE1, MKL2, OCLN, and JAM3. These unique clinical and imaging findings were described before among familial reports with FBDS. However, our patients represent a recognizable phenoty...Continue Reading

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Citations

Oct 6, 2016·Archives of Pathology & Laboratory Medicine·Jana M RitterSherif R Zaki
Mar 23, 2017·American Journal of Medical Genetics. Part a·Miguel Del CampoUNKNOWN Zika Embryopathy Task Force-Brazilian Society of Medical Genetics ZETF-SBGM
Nov 21, 2018·Clinical Case Reports·Katia E F A CoelhoIvar V Brandi
Nov 13, 2020·BMC Pregnancy and Childbirth·Takahiro OmotoShogo Kin
Aug 3, 2021·Neurogenetics·Mohamed S Abdel-HamidGhada M H Abdel-Salam

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