A syndrome of severe developmental anomalies, marked by short-limbed dwarfism affecting the lower extremities, bowing of the lower limbs, genua vara, occasional genua valga, costochondral beading, enlarged wrists and ankles, enamel hypoplasia, delayed dentition, and premature loss of permanent dentition. Associated disorders include waddling gait, protuberant abdomen and, less commonly, dolicocephaly and craniosynostosis. It is a metabolic disturbance of hypophosphatemia, elevated serum alkaline phosphatase, diminished tubular reabsorption of phosphate with resulting hyperphosphaturia, and faulty intestinal absorption of calcium. It is resistant to Vitamin-D therapy. Onset usually takes place after 6 months of age. Inheritance is X-linked.
- F. Albright, A. M. Butler, E. Bloomberg:
Rickets resistant to vitamin D therapy.
American Journal of Diseases of Children, Chicago, 1937, 54: 529-547.