Osteogenesis imperfecta

Abstract

Being the Iltinlerinn Lecture de1ir:ered ut Ih? Rognl College of .Sicrgeons of Enzland 0 t h Feb. 13, 1921.)OSTF:OCEKESIS impcrfectta is tlic name givcn t o a diseasc whicth is charactcrizcd by a congeiiital defect in thc ovolution o f the ostcoblast, and recognized cliriioally by defective ossification of thc craniurri and a multiplicity of fracturcs resulting from trivial ('auscs.Cascs, now recognized as instanccs of this affcction, are srattcred throughout literature u~id(tr such titles as fetal rickct s, idiopathic. fragilitas ossium, and osteopsathyrosis ; whilst Porak a i d Durantc have suggested the name of the true pelvis has the shape of a triangle with the corners rounded. 'l'he lei1 ilium is fracturcd transversely a little bclow thc crest." In the right lozver extremitJl thc femur is bent outwards and the leg boncs prominently forwards, so that the thigh and leg bones display a scniicircrilar The 5th metae(irpa1 bone is fractured at its lower end.

A Palpable Parathyroid Tumour in a Patient with Osteogenesis Imperfecta

“…The fundamental defect is not understood. It has been suggested (Knaggs 1924) that defective differentiation of the osteoblast might be responsible, but the serum alkaline phosphatase may rise after fractures. McKusick (1966) proposed that there might be a failure of collagen maturation.…”

Osteogenesis Imperfecta

“…Lawford Knaggs (1924) cites a patient with multiple fractures at birth, who evidently earned his living even though a cripple for many years, but who in later years was poverty stricken, and as a result of hunger malacia died from multiple fractures at the ripe old age of 68. Brailsford (1953) states that the plasticity of the bones during infancy and adolescence, which causes the pronounced curvatures and deformities, appears to consolidate in early adult life.…”

Osteogenesis Imperfecta

“…Lawford Knaggs (1924) cites a patient with multiple fractures at birth, who evidently earned his living even though a cripple for many years, but who in later years was poverty stricken, and as a result of hunger malacia died from multiple fractures at the ripe old age of 68. Brailsford (1953) states that the plasticity of the bones during infancy and adolescence, which causes the pronounced curvatures and deformities, appears to consolidate in early adult life. There is little or no progress in the deformity in later life.…”