Genetic transmission of fibrodysplasia ossificans progressiva. Report of a family

Fibrodysplasia ossificans progressiva is a rare connective-tissue disorder characterized by congenital malformation of the great toes and by progressive heterotopic ossification of the tendons, ligaments, fasciae, and skeletal muscles. We document the genetic transmission of fibrodysplasia ossifican...

Full description

Saved in:
Bibliographic Details
Published in:Journal of bone and joint surgery. American volume 1993-08, Vol.75 (8), p.1214-1220
Main Authors: Kaplan, F S, McCluskey, W, Hahn, G, Tabas, J A, Muenke, M, Zasloff, M A
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Child, Preschool
Chromosome Aberrations - genetics
Chromosome Disorders
Diseases of the osteoarticular system
Female
Humans
Infant
Male
Medical sciences
Miscellaneous. Osteoarticular involvement in other diseases
Myositis Ossificans - diagnostic imaging
Myositis Ossificans - genetics
Pedigree
Radiography
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Fibrodysplasia ossificans progressiva is a rare connective-tissue disorder characterized by congenital malformation of the great toes and by progressive heterotopic ossification of the tendons, ligaments, fasciae, and skeletal muscles. We document the genetic transmission of fibrodysplasia ossificans progressiva from a sporadically affected father to each of his three childrentwo daughters and a son. Previous consideration of a genetic etiology was based on the fact that the disease has been reported in several sets of monozygotic twins, that an increased paternal age has been associated with sporadic occurrences of the disorder, and that there have been several reports of genetic transmission in the remote past. Although an autosomal-dominant genetic transmission has long been suspected, the findings in the family reported on here provide confirmation for such inheritance and a basis for the diagnosis and counseling of patients who have this disease.
ISSN:0021-9355
1535-1386
DOI:10.2106/00004623-199308000-00011