A hereditary skeletal dysplasia of proportionate dwarfism with characteristic inner cortical thickening and stenosis of the medullary cavities of the tubular bones. Both sexes with equal severity. Onset a few days after birth. Marked by tetanic convulsions, delayed physical development, small face, frontal bossing, large anterior fontanelle, episodes of hypocalcaemic tetany, hyperphosphataemia. Sometimes associated with ocular signs. Activity and intelligence normal. Etiology unknown. Autosomal dominant inheritance suggested, but X-linked inheritance not excluded.
First described by Kenny and Linarelli in 1966. Caffey one year later described additional radiological findings in the two original patients. Autosomal dominant inheritance.
- F. M. Kenny, L. Linarelli:
Dwarfism and cortical thickening of tubular bones: Transient hypocalcemia in mother and son.
American Journal of Diseases of Children, Chicago, 1966, 111: 201-207.
- J. Caffey:
Congenital stenosis of medullary spaces in tubular bones and calvaria in two proportionate dwarfs - mother and son; coupled with transitory hypocalcemic tetany.
American Journal of Roentgenology, Leesburg, Virginia, 1967, 100: 1-11.