Phenotypic variability in the Baller-Gerold syndrome: report of a mildly affected patient and review of the literature

Abstract

We report a patient with a mild form of the Baller-Gerold syndrome (craniosynostosis-radial aplasia syndrome). The patient, a 3-year 3 month-old boy, has trigonocephaly with bilateral absent radii and thumbs. His growth parameters and psychomotor development have been normal. No visceral anomalies were found. This patient represents a new case of the rare mild form of the syndrome.

TWIST gene mutation in a patient with radial aplasia and craniosynostosis: Further evidence for heterogeneity of Baller-Gerold syndrome

“…The wide phenotypic variability of what is considered Baller-Gerold syndrome in combination with the numerous reports of overlap with other disorders and revised diagnoses has led several investigators to question whether Baller-Gerold syndrome is a distinct entity [Cohen and Torriello, 1996;Quarrell et al, 1998], and to suggest that it be diagnosed based on the narrow phenotype of the original reports by Baller [1950] and Gerold [1959]. Quarrell et al [1998] consider the cases presented by Ramos Fuentes et al [1994] and Galea and Tolmie [1990] to fit this narrower definition, and they recommend extensive cytogenetic and hematological studies for newly identified cases. The patient reported by Arena and Carlin [1989] may also fit these criteria, as he does not have additional malformations.…”

Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome

“…Both types of malformations show a relatively high degree of variability. Any of the cranial sutures may be affected, but coronal involvement alone or combined is most common [Ramos Fuentes et al, 1994]. The upper limb defects range from asymmetric thumb or radial hypoplasia to bilateral agenesis of radius, first metacarpal, and thumb.…”