Expanding the phenotypic spectrum of the Baller-Gerold syndrome

We report on two sisters off-spring of healthy consanguineous parents, where their major clinical features absent thumb, radial aplasia and craniosynostosis led to a diagnosis of Baller-Gerold syndrome BGS (OMIM:218600). Syndromes with associated preaxial reduction defects mainly Fanconi pancytopenia, VATER association, Rothmund-Thompson and Roberts phocomelia syndrome were excluded by proper clinical and cytogenetic studies. In addition to craniosynostosis and radial deficiency, our studied cases had absent or hypoplastic thumbs, postaxial polydactyly in the left foot, genital anomalies and orodental manifestations. Review of the literature depicted phenotypic variability of BGS. The presence of affected sibs the offspring of consanguineous parents confirms autosomal recessive inheritance. The observation of associated postaxial polydactyly, blue sclera, rotatory nystagmus, other skeletal and orodental anomalies broadened the spectrum of phenotypic variability. Awareness of the expanded phenotypic spectrum will improve the diagnosis and genetic counseling of BGS.