Medullary Stenosis of the Tubular Bones Associated with Hypocalcemic Convulsions and Short Stature1

Kenny, Linarelli, and Caffey described an infant and mother with transient hypocalcemia, hyperphosphatemia, and unique skeletal abnormalities (5, 2). The syndrome was composed of proportionate dwarfism, skeletal maturation retardation, narrow long-bone shafts with stenosed medullary cavities, large anterior fontanelle and lack of differentiation of the calvaria into a diploic space and outer and inner tables. An unrelated infant with similar roentgen findings and convulsions secondary to hypocalcemia has been identified and is reported to substantiate this clinical entity. Case Report L. L. was born at term by precipitous delivery and suffered biparietal cephalhematomas. At seven days of age jerking movements of all extremities began. Each episode lasted several minutes, and there were repeated episodes each day. Following admission to St. Louis Children's Hospital at ten days of age, generalized seizures were observed and could not be controlled with phenobarbital and Dilantin. The calcium was 6.0 mg per...