Article
Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.
American journal of medical genetics. Part A - 1 May 2015
Abdel-Salam Ghada M H, Abdel-Hamid Mohamed S, El-Khayat Hamed A, Eid Ola M, Saba Soliman, Farag Mona K, Saleem Sahar N, Gaber Khaled R
Abstract excerpt
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...
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