Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism

• Main Authors: Joanna Goes Castro Meira (Author), Manoel Alfredo Curvelo Sarno (Author), Ágatha Cristhina Oliveira Faria (Author), Guilherme Lopes Yamamoto (Author), Débora Romeo Bertola (Author), Gabriela Gayer Scheibler (Author), Dione Fernandes Tavares (Author), Angelina Xavier Acosta (Author)
• Format: Book
• Published: Federação Brasileira das Sociedades de Ginecologia e Obstetrícia, 2018-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 mu...