Familial bone disease resembling rickets (hereditary metaphysial dysostosis)

Familial metaphysial dysostosis has been described as it occurred among 18 members of a family in seven generations. The roentgenologic changes were very similar to those seen in vitamin D resistant rickets. No biochemical defect could be detected. Studies of renal function with special reference to...

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Bibliographic Details
Published in:Pediatrics (Evanston) 1962-06, Vol.29 (6), p.996-1004
Main Authors: STICKLER, G B, MAHER, F T, HUNT, J C, BURKE, E C, ROSEVEAR, J W
Format: Article
Language:English
Subjects:
Bone and Bones
Bone Diseases - genetics
Dysostoses
Humans
Old Medline
Osteochondrodysplasias
Rickets
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Summary:Familial metaphysial dysostosis has been described as it occurred among 18 members of a family in seven generations. The roentgenologic changes were very similar to those seen in vitamin D resistant rickets. No biochemical defect could be detected. Studies of renal function with special reference to tubular reabsorption of phosphorus gave normal values. The treatment of choice is osteotomy, after epiphysial closure has occurred, to correct the pronounced bowing of the legs. Administration of vitamin D in high doses has no effect on the course of this disease.
ISSN:0031-4005
1098-4275
DOI:10.1542/peds.29.6.996