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February 1966

Dwarfism and Cortical Thickening of Tubular Bones: Transient Hypocalcemia in a Mother and Son

Author Affiliations

From the University of Pittsburgh School of Medicine and the Children's Hospital of Pittsburgh. Dr. Linarelli is presently at Johns Hopkins Hospital, Baltimore.

Am J Dis Child. 1966;111(2):201-207. doi:10.1001/archpedi.1966.02090050133013

THIS PAPER describes a mother and son, both markedly dwarfed; both have unusual findings in the radiographs of their bones. The mother had a documented episode of hypocalcemia and hyperphosphatemia with tetany, following a surgical procedure at the age of 39 years. Subsequently, she has been asymptomatic without therapy. Her roentgenograms show narrow long bones with thick cortical walls and diminished medullary cavities, unlike any known type of dysplasia or dystrophy. The son had symptomatic hypocalcemia in infancy with subsequent normocalcemia, and his bones are similar to his mother's. To our knowledge, there are no previous descriptions of a possibly heritable form of dwarfism with similar radiographic findings.

Report of Cases  Mother.—A. Past History.—The mother was born on Jan 11, 1925 and is now 39 years of age. She weighed 3 lb (1,361 gm) at birth after a gestation of unknown duration. At 5 years of age she