Hereditary skeletal dysplasia affecting both sexes with characteristic cortical hyperplasia, macrocrania and hyperphosphatasis. Also elevated uric acid, and aminopeptidase, and urinary peptide-bound hydroxyproline and uric acid.
The symptoms appear in late infancy and consist of growth deficiency, enlarging of head, hearing loss due to nerve compression, angioid streaks of the retina, optic atrophy, hypertension, blue sclerae, dental caries, fusiform swelling and bowing of the tubular bones and, occasionally, multiple fractures. Demineralisation and osteoporosis may be very severe in some cases and mild in others. Usually, normal intelligence. Autosomal recessively inheritable disturbance with considerable intrafamilial variability of expression.
See also Paget's disease, under Sir James Paget, British surgeon and physiologist, 1814-1899.
- H. Bakwin, M. Eiger:
Fragile bones and macrocranium.
Journal of Pediatrics, St. Louis, 1956, 49: 558-564.