Bone and Soft-Tissue Disorders
High incidence of x-ray changes in phenylalanine-restricted infants:
- metaphyseal cupping of long bones (3050%), especially wrist
- calcific spicules extending vertically from metaphysis into epiphyseal cartilage (DDx to rickets)
- sclerotic metaphyseal margins
- osteoporosis
- delayed skeletal maturation
DDx: homocystinuria