GALNS and lysosomal storage disease with skeletal involvement: He is a Hispanic male who was diagnosed at 3 years of age following identification of dysostosis multiplex and subsequent demonstration of urinary keratan sulfaturia with deficient fibroblast GALNS enzyme (7000 units; reference range > 40,000) and eventual demonstration of GALNS pathogenic variants (c.1156C > T / c.924 T > G + c.930G > C).