Authors – Lomholt JF, Keeling JW, Hansen BF, Ono T,Stoltze K, Kjær I
Objectives – To describe the development of the osseous field enclosing the cerebellum and part of the brain stem (the neuro-osteological cerebellar field) in Down syndrome, and compare the development with normal developmental standard of the field.
Design – Radiographic, cephalometric and histologic examination of 58 legally or spontaneously aborted Down syndrome prenatal human fetuses; crown–rump length of 80–255 mm and approximate gestational age from 13 to 26 weeks.
Results – The growth of the Down syndrome cerebellar field is smaller in the sagittal and vertical directions than in normal fetuses.
Conclusion – In the present study the pathological development of the cerebellar field was described in a genotypic sample. In combining normal and pathological development of neural and osseous tissues a better understanding of the genotype/phenotype interactions is attainable and fields of common gene expression maybe defined.