Hereditary hyperphosphatasia. Studies of three siblings

Roby C. Thompson, Gerald E. Gaull, Samuel J. Horwitz, Robert K. Schenk

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Three cases of hereditary hyperphosphatasia are reported. Histologic and biochemical investigation suggests that there is a rapid turnover of lamellar bone, with failure to lay down compact cortical bone. Clinically, this manifests itself by increased concentrations of alkaline and acid phosphatases in the serum, massive urinary excretion of hydroxyproline- and proline-containing peptides, and by the early onset of severe structural deformities of the skeleton and skull with secondary cranial nerve involvement. The disorder is apparently transmitted as an autosomal recessive trait.

Original languageEnglish (US)
Pages (from-to)209-219
Number of pages11
JournalThe American Journal of Medicine
Issue number2
StatePublished - Aug 1969

Bibliographical note

Funding Information:
* From the Departments of Orthopedics, Pediatrics and Neurology, Columbia-Presbyterian Medical Center, New York, New York, and the Department of Pediatric Research, New York State Institute for Basic Research in Mental Retardation, Staten Island, New York. This study was supported by Grant NB-03359 of the National Ins& tute for NeuroIogical Diseases and Blindness, the Department of Mental Hygiene of the State of New York, and the U. S. Public Health Service Training Grant TIAM 5408. It was presented in part at the meeting of the American Academy of Orthopaedic Surgeons, Chicago, January 1968. Requests for reprints should be addressed to Roby C. Thompson, Jr., M.D. Manuscript received August 1, 1968. t Present address: Department of Orthopedic Surgery,U niversity of Virginia Hospital, Charlottesville, Virginia 22903.


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