Spondyloepiphyseal dysplasia

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spondyloepiphyseal dysplasia

(Science: radiology) autosomal dominant, retinal detachment to blindness findings: delay in ossification, vertebral bodies: decreased height, anterior hypoplasia at T-L jx, incompletely ossified odontoid process, supernumerary epihyseal ossification centres of metacarpals (especially 1st, 2nd) to excessive elongation (also in cleidocranial dysostosis), pelvis: horizontal acetabular roofs, slow ossification of acetabulum and femoral head to fossae appear empty, varus deformity of femoral neck