Progresses over the past years have extensively improved our capacity to use genome-
scale analyses—including high-density genotyping and exome and genome sequencing …

Baller-Gerold syndrome is a rare disorder. To date, 31 patients have been reported [Baller,
1950; Gerold, 1959; Greitzer et al., 1974; Temtany and McKusick, 1978; Feingold et al …

Abstract The term Baller-Gerold syndrome was coined by Cohen [1979: Birth Defects 15
(5B): 13–63] to designate the phenotype of craniosynostosis and radial aplasia. It is thought …

We report a male patient with craniosysnostosis, bilateral radial and ulnar hypoplasia,
absent thumbs, poikiloderma, and short stature. His parents are first cousins. Although this …

Baller-Gerold (BGS, MIM# 218600) and Roberts (RBS, MIM# 268300) syndromes are rare
autosomal recessive disorders caused, respectively, by biallelic alterations in RECQL4 …

We report a 4 year old boy in whom the clinical features of craniosynostosis and bilateral
absent radii led to a diagnosis of Baller-Gerold syndrome. Additional congenital …

We report on a pair of monozygotic twins with probable Baller‐Gerold syndrome (BGS). Twin
A had severe coronal craniosynostosis. Twin B had right radioulnar and ipsilateral first …

Cases of craniosynostosis may be sporadic or familial. 12 As the phenotypic expression of
the craniosynostosis is highly variable, the parents of an affected child should always be …

Background Osteosarcoma is the most prevalent primary malignant bone tumor of children
and young adults, with poor survival in 40%. In order to identify signaling pathways involved …

Abstract Baller-Gerold Syndrome (BGS) is a rare autosomal recessive disorder that is
apparent at birth. The disorder is characterized by distinctive malformations of the skull and …