PubMed · 13925064
The source did not provide an abstract. Follow the original record for more information.
Explore connections, maps & timelines
B F VAUGHAN. 1962. Peripheral dysostosis.. https://doi.org/10.1111/j.1440-1673.1962.tb03402.x
Cite the original work for its findings. Save a collection to share your selection of sources.
KEEP EXPLORING
Spondylocostal dysostosis is a rare congenital segmental costovertebral malformation. Neural tube defects associated with it have been reported several times, and a genetic cause has been proposed. The authors report on the first patient with both spondylocostal dysostosis and an intrathoracic myelomeningocele in whom surgical treatment was successful.
Spondylocostal dysostoses are a group of rare inherited disease with a heterogeneous disorder of vertebral segmentation defects and rib anomalies, which lead to respiratory problems predicting the clinical outcome. Spiral CT with three-dimensional (3D) imaging provides exact measurement of the bony rib cage. We report a case of an infant with spondylothoracic dysostosis, a phenotype of spondylocostal dysostoses, and 3D spiral CT findings of his rib cage since it may contribute to the surgical planning.
In 1982, one of us reported a cluster of eight individuals affected by spondylocostal dysostosis (SD, MIM 277300) in four nuclear families indigenous to a village from eastern Switzerland. We tested the hypothesis that the molecular basis for this cluster was segregation of a single mutation in the DLL3 gene, recently linked to SD. Marker haplotypes around the DLL3 locus contradicted this hypothesis as three different haplotypes were seen in affected individuals, but sequence analysis showed that three unreported DLL3 mutations were segregating: a duplication of 17 bp in exon 8 (c.1285-1301dup), a single-nucleotide deletion in exon 5 (c.615delC), and a R238X nonsense mutation in exon 6. Contrary to our initial assumption of a single allele segregating in this small community, three different pathogenic alleles were observed, with a putative founder mutation occurring at the homozygous state but also compounding with, and thus revealing, two other independent mutations. As all three mutations predict truncation of the DLL3 protein and loss of the membrane-attaching domain, the results confirm that autosomal recessive spondylocostal dysostosis represents the null phenotype of DLL3, with remarkable phenotypic consistency across families.