{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T22:15:04Z","timestamp":1787004904913,"version":"build-2736575974"},"reference-count":7,"publisher":"Georg Thieme Verlag KG","issue":"01","license":[{"start":{"date-parts":[[2021,2,1]],"date-time":"2021-02-01T00:00:00Z","timestamp":1612137600000},"content-version":"vor","delay-in-days":31,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["AJP Rep"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Case Report\u2003A 32-year-old female with a history of three prior pregnancy losses presented for genetic testing following an ultrasonography diagnosis of fetal hydranencephaly. Baby was born via C-section and was noted to have a head circumference of 48\u2009cm, in addition to ocular and cardiac anomalies and dysmorphic features. Whole genome sequencing revealed a homozygous variant in LAMB1 gene.<\/jats:p>\n                  <jats:p>Discussion\u2003The pathobiogenesis of hydranencephaly is incompletely understood and is attributed to vascular, infectious, or genetic etiology. Herein we present LAMB1 as a monogenic cause of fetal hydranencephaly which was incompatible with life. Previously, LAMB1-associated phenotype consisted of cobblestone lissencephaly and hydrocephalus, developmental delay, and seizures. Our proband expands the phenotypic spectrum of this malformative encephalopathy.<\/jats:p>","DOI":"10.1055\/s-0040-1722728","type":"journal-article","created":{"date-parts":[[2021,2,1]],"date-time":"2021-02-01T22:54:58Z","timestamp":1612220098000},"page":"e26-e28","source":"Crossref","is-referenced-by-count":11,"title":["Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy"],"prefix":"10.1055","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1197-923X","authenticated-orcid":false,"given":"Kuntal","family":"Sen","sequence":"additional","affiliation":[{"name":"Division of Neurogenetics and Developmental Pediatrics, Children's National Hospital, Washington, District of Columbia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shagun","family":"Kaur","sequence":"additional","affiliation":[{"name":"Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David W.","family":"Stockton","sequence":"additional","affiliation":[{"name":"Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Nyhuis","sequence":"additional","affiliation":[{"name":"Department of Prenatal and Cancer Genetics, Henry Ford Health System, Detroit, Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacquelyn","family":"Roberson","sequence":"additional","affiliation":[{"name":"Department of Prenatal and Cancer Genetics, Henry Ford Health System, Detroit, Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2021,2,1]]},"reference":[{"issue":"03","key":"ref1","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1016\/j.ajhg.2013.02.005","article-title":"Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities","volume":"92","author":"F Radmanesh","year":"2013","journal-title":"Am J Hum Genet"},{"issue":"21","key":"ref2","doi-asserted-by":"crossref","first-page":"2195","DOI":"10.1212\/WNL.0000000000001607","article-title":"Cystic leukoencephalopathy with cortical dysplasia related to LAMB1 mutations","volume":"84","author":"D Tonduti","year":"2015","journal-title":"Neurology"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1186\/s13052-014-0079-1","article-title":"Hydranencephaly: cerebral spinal fluid instead of cerebral mantles","volume":"40","author":"P Pavone","year":"2014","journal-title":"Ital J Pediatr"},{"issue":"02","key":"ref4","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/S1875-9572(08)60011-X","article-title":"Hydranencephaly associated with interruption of bilateral internal carotid arteries","volume":"49","author":"Y W Quek","year":"2008","journal-title":"Pediatr Neonatol"},{"issue":"02","key":"ref5","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1016\/j.pediatrneurol.2012.10.009","article-title":"Looking at the missing brain: hydranencephaly case series and literature review","volume":"48","author":"G Cecchetto","year":"2013","journal-title":"Pediatr Neurol"},{"issue":"09","key":"ref6","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1212\/WNL.0b013e31820e7751","article-title":"Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly","volume":"76","author":"M E Meuwissen","year":"2011","journal-title":"Neurology"},{"issue":"08","key":"ref7","doi-asserted-by":"crossref","first-page":"934","DOI":"10.1038\/ng.2331","article-title":"De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes","volume":"44","author":"J B Rivi\u00e8re","year":"2012","journal-title":"Nat Genet"}],"container-title":["American Journal of Perinatology Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0040-1722728.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,2,1]],"date-time":"2021-02-01T22:55:02Z","timestamp":1612220102000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0040-1722728"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1]]},"references-count":7,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2021,1,13]]},"published-print":{"date-parts":[[2021,1]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0040-1722728","relation":{},"ISSN":["2157-6998","2157-7005"],"issn-type":[{"value":"2157-6998","type":"print"},{"value":"2157-7005","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1]]}}}