Abstract
The clinical and radiographic features of 47 cases of neonatally manifest osteogenesis imperfecta were analyzed. A scoring system was devised to code the degree of skeletal changes. A score of 2.7 and more carried a prospective mortality of 88%. Scores of 2.6 and less were associated with a survival rate of 90%. The prognosis was particularly favourable in a subgroup of patients characterized by marked bowing of the lower extremities, mild involvement of the rest of the skeleton and white sclerae. Neonates with these features tended to have a good long-term prognosis, with few additional fractures and partial or total spontaneous resolution of the limb deformity. The study confirmed the genetic and prognostic heterogeneity of the disorder, which comprises several autosomal dominant and recessive entities.
Similar content being viewed by others
References
Chowers I, Czaczkes JW, Ehrenfeld EN, Landau S (1962) Familial aminoaciduria in osteogenesis imperfecta. J Am Med Assoc 181: 771–775
Falvo KA, Root L, Bullough PG (1974) Osteogenesis imperfecta: Clinical evaluation and management. J Bone Joint Surg [A] 54: 783–793
Glanzmann E (1944–1946) Familiäre Osteogenesis imperfecta (Typus Vrolik) und ihre Behandlung mit Vitamin D-Stoß. Bull Schweiz Akad Wissensch 1: 180–189
Goldfarb AA, Ford D (1954) Osteogenesis imperfecta congenita in consecutive siblings J Pediatr 44: 264–268
Horan F, Beighton P (1975) Autosomal recessive inheritance of osteogenesis imperfecta. Clin Genet 8: 107–111
Ibsen KH (1967) Distinct varieties of osteogenesis imperfecta. Clin Orthoped 50: 279–290
Kaplan M, Baldino C (1953) Dysplasie périostale paraissant familiale et transmission suivant le mode mendelien técessif. Arch Franc Pédiatr 10: 943–950
Maroteaux P (1974) Maladies osseuses de l'enfant. Flammarion, Paris
McKusick VA (1973) Heritable disorders of connective tissue. Mosby, St Louis
Nelson WE (1979) Textbook of pediatrics. Saunders, Philadelphia
Remigio PA, Grinvalsky HT (1970) Osteogenesis imperfecta congenita. Am. J Dis Child 119: 524–528
Sillence DO, Senn A, Danks DM (1979) Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 16: 101–116
Wilson MG (1974) Congenital osteogenesis imperfecta. Birth Defects (Orig Art Series) X, No 12: 296–298
Wynne-Davies R (1980) Personal communication
Author information
Authors and Affiliations
Additional information
Supported by grants from the Stiftung Volkswagenwerk, the University of Cape Town Staff Research Fund and the Medical Research Council of South Africa
Rights and permissions
About this article
Cite this article
Spranger, J., Cremin, B. & Beighton, P. Osteogenesis imperfecta congenita. Pediatr Radiol 12, 21–27 (1982). https://doi.org/10.1007/BF01221706
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01221706