{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T14:51:44Z","timestamp":1758120704287},"reference-count":8,"publisher":"Federa\u00e7\u00e3o das Associa\u00e7\u00f5es de Ginecologia e Obstetr\u00edcia","issue":"09","license":[{"start":{"date-parts":[[2018,9,19]],"date-time":"2018-09-19T00:00:00Z","timestamp":1537315200000},"content-version":"vor","delay-in-days":18,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Rev Bras Ginecol Obstet"],"published-print":{"date-parts":[[2018,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Atelosteogenesis type I (AOI) is an autosomal dominant skeletal dysplasia caused by mutations in the filamin B (FLNB) gene with classic and well-recognizable clinical findings. However, parents affected with a mild phenotype, probably with somatic mosaicism, can generate offspring with a much more severe phenotype of AOI. In the present report, we describe a female newborn with classic AOI leading to early neonatal death, whose diagnostic was based on prenatal radiological findings and on the physical examination of the father. Since her father had limb deformities and corporal asymmetry, suggesting somatic mosaicism, his biological samples were analyzed through a gene panel for skeletal dysplasias. A missense mutation not previously described in the literature was detected in the FLNB gene, affecting \u223c 20% of the evaluated cells and, therefore, confirming the diagnosis of mosaic AOI in the father. The molecular analysis of the father was crucial to suggest the diagnosis of AOI in the newborn, since she died early and there were no biological samples available.<\/jats:p>","DOI":"10.1055\/s-0038-1670684","type":"journal-article","created":{"date-parts":[[2018,9,19]],"date-time":"2018-09-19T22:44:36Z","timestamp":1537397076000},"page":"570-576","source":"Crossref","is-referenced-by-count":3,"title":["Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism"],"prefix":"10.61622","volume":"40","author":[{"given":"Joanna Goes Castro","family":"Meira","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Hospital Universit\u00e1rio Professor Edgard Santos, Universidade Federal da Bahia, Salvador, BA, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manoel Alfredo Curvelo","family":"Sarno","sequence":"additional","affiliation":[{"name":"Maternidade Clim\u00e9rio de Oliveira, Universidade Federal da Bahia, Salvador, BA, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1gatha Cristhina Oliveira","family":"Faria","sequence":"additional","affiliation":[{"name":"Center for Studies of the Human Genome and of Stem Cells Department of Genetics and Evolutionary Biology, Institute of Biosciences, Universidade de S\u00e3o Paulo, S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guilherme Lopes","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Center for Studies of the Human Genome and of Stem Cells Department of Genetics and Evolutionary Biology, Institute of Biosciences, Universidade de S\u00e3o Paulo, S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D\u00e9bora Romeo","family":"Bertola","sequence":"additional","affiliation":[{"name":"Center for Studies of the Human Genome and of Stem Cells Department of Genetics and Evolutionary Biology, Institute of Biosciences, Universidade de S\u00e3o Paulo, S\u00e3o Paulo, SP, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriela Gayer","family":"Scheibler","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Hospital Universit\u00e1rio Professor Edgard Santos, Universidade Federal da Bahia, Salvador, BA, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dione Fernandes","family":"Tavares","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Hospital Universit\u00e1rio Professor Edgard Santos, Universidade Federal da Bahia, Salvador, BA, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelina Xavier","family":"Acosta","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Hospital Universit\u00e1rio Professor Edgard Santos, Universidade Federal da Bahia, Salvador, BA, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"47794","published-online":{"date-parts":[[2018,9,19]]},"reference":[{"issue":"04","key":"ref1","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/ng1319","article-title":"Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis","volume":"36","author":"D Krakow","year":"2004","journal-title":"Nat Genet"},{"issue":"01","key":"ref2","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/ajmg.1320130105","article-title":"Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia): a neonatally lethal short-limbed skeletal displasia","volume":"13","author":"D O Sillence","year":"1982","journal-title":"Am J Med Genet"},{"issue":"07","key":"ref3","doi-asserted-by":"crossref","first-page":"705","DOI":"10.1002\/humu.20348","article-title":"Mutations in two regions of FLNB result in atelosteogenesis I and III","volume":"27","author":"C 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