Article
Expanding the phenotypic spectrum of the Baller-Gerold syndrome.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2003
Temtamy S A, Aglan M S, Nemat A, Eid M
Abstract excerpt
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...
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