The prenatal development of the human cerebellar field in Down syndrome

Structured 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.