Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity
Version of Record online: 6 JUN 2005
Copyright © 1984 Wiley-Liss, Inc., A Wiley Company
American Journal of Medical Genetics
Volume 17, Issue 2, pages 407–423, February 1984
How to Cite
Sillence, D. O., Barlow, K. K., Garber, A. P., Hall, J. G. and Rimoin, D. L. (1984), Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity. Am. J. Med. Genet., 17: 407–423. doi: 10.1002/ajmg.1320170204
- Issue online: 6 JUN 2005
- Version of Record online: 6 JUN 2005
- Manuscript Revised: 4 APR 1983
- Manuscript Received: 20 DEC 1982
- O.I. Foundation of North America, O.I. Society of N.S.W., Australia
- NIH Program Project. Grant Number: HD 11966
- March of Dimes Birth Defects Foundation
- Fulbright-Hays Exchange Scholar at the Harbor-UCLA Medical Center, Torrance, California
- perinatally lethal osteogenesis imperfecta;
- genetic heterogeneity;
- crumpled femora;
- beaded ribs;
- segregation ratio;
- autosomal recessive
A group of fetuses with a perinatally lethal variety of osteogenesis imperfecta (O.I. type II) is charaterized by short limbs, and clinical and roentgenological evidence of severe osseous fragility and defective ossification. Forty-eight cases were reviewed and can be subdivided into 3 groups on the basis of small but probably significant differences in clinical and radiographic findings. Group A (38 cases): short, broad, “crumpled” long bones, angulation of tibiae and continuously beaded ribs. Group B (6 cases): short, broad, crumpled femora, angulation of tibiae but normal ribs or ribs with incomplete beading. Group C (4 cases): long, thin, inadequately modelled, rectangular long bones with multiple fractures and thin beaded ribs. Consistency of findings within sibships suggests the groups reflect genetic heterogeneity.
An increased frequency of parental consanguinity, sib occurrence with normal parents, and normal mean paternal age at birth, suggest that most cases of O.I. type II represent autosomal recessive traits.
Some previously reported cases and the biochemical findings in one case suggest still further genetic heterogeneity.