Diagnosis of atelosteogenesis type I suggested by fetal ultrasonography and atypical paternal phenotype with mosaicism
Rev. bras. ginecol. obstet; 40 (9), 2018
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 much mo...