{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T15:31:02Z","timestamp":1770823862207,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,3,10]],"date-time":"2015-03-10T00:00:00Z","timestamp":1425945600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:sec><jats:label\/><jats:p>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\u2010like 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 <jats:italic>NDE1, MKL2, OCLN<\/jats:italic>, and <jats:italic>JAM3<\/jats:italic>. These unique clinical and imaging findings were described before among familial reports with FBDS. However, our patients represent a recognizable phenotype of developmental brain malformations, that is, apparently distinguishable from either familial microhydranencephaly or microlissencephaly that were collectively termed FBDS. Thus, the use of the umbrella term FBDS is no longer helpful. Accordingly, we propose the term fetal brain arrest to distinguish them from other familial patients diagnosed as FBDS. The presence of five affected patients from three unrelated consanguineous families suggests an autosomal\u2010recessive mode of inheritance. The spectrum of fetal brain disruption sequence is reviewed. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37010","type":"journal-article","created":{"date-parts":[[2015,3,10]],"date-time":"2015-03-10T06:03:02Z","timestamp":1425967382000},"page":"1089-1099","source":"Crossref","is-referenced-by-count":7,"title":["Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype"],"prefix":"10.1002","volume":"167","author":[{"given":"Ghada M.H.","family":"Abdel\u2010Salam","sequence":"first","affiliation":[{"name":"Clinical Genetics Department Human Genetics and Genome Research Division, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed S.","family":"Abdel\u2010Hamid","sequence":"additional","affiliation":[{"name":"Medical Molecular Genetics Department Human Genetics and Genome Research Division, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hamed A.","family":"El\u2010Khayat","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Faculty of Medicine, Ain Shams University Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ola M.","family":"Eid","sequence":"additional","affiliation":[{"name":"Human Cytogenetics Department Human Genetics and Genome Research Division, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Soliman","family":"Saba","sequence":"additional","affiliation":[{"name":"Department of Pathology Cairo University Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mona K.","family":"Farag","sequence":"additional","affiliation":[{"name":"Fetal Medicine Department Human Genetics and Genome Research Division, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sahar N.","family":"Saleem","sequence":"additional","affiliation":[{"name":"Department of Radiology Cairo University Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khaled R.","family":"Gaber","sequence":"additional","affiliation":[{"name":"Fetal Medicine Department Human Genetics and Genome Research Division, National Research Centre Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,3,10]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32549"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35480"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02079071"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.003"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.03.019"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.160.15.2393"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e32833946e9"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.4.273"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310100813"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1997.02170490093020"},{"key":"e_1_2_5_12_1","first-page":"213","article-title":"Microcephaly due to fetal brain disruption sequence","volume":"25","author":"Gabis L","year":"1997","journal-title":"Case report. 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