New dysostosis showing multilevel absence of vertebral pedicles: unique developmental anomaly of vertebral arches?
We report on an apparently normal child who shows hypopaplasia of the vertebral pedicles and posterior arches of several cervical, thoracic, and lumbar vertebrae with normally fused spinous apophyses, hypoplastic sacrum, lumbar epidural lipomatosis, synostoses of some cervical vertebral disks, and sacral spina bifida. The most likely mechanism is an abnormal differentiation of the spinal processes, due most probably to an absence of differentiation in cartilage of the dense mesenchyme forming their most anterior part. Because the anomalies affect multiple levels, we highly suspect a genetic basis to this unusual dysostosis affecting the development of the posterior sclerotomes.
Verloes
A
A
Wallonia Centre for Human Genetics, Liège University, Liège, Belgium. Alain.Verloes@chu.ulg.ac.be
Muller
C
C
Philippet
P
P
D000328:Adult; D002574:Cervical Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging; D004413:Dysostoses / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D006801:Humans; D008159:Lumbar Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging; D008279:Magnetic Resonance Imaging; D008297:Male; D011859:Radiography; D013904:Thoracic Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging