J Korean Radiol Soc.  2001 Aug;45(2):201-205. 10.3348/jkrs.2001.45.2.201.

Genetic Transmission of Fibrodysplasia Ossificans Progressiva: Report of Two Cases in a Family

• Pyo HS
• Hwang HK
• Park BM

• KMID: 1583400
• DOI: http://doi.org/10.3348/jkrs.2001.45.2.201

Abstract

Fibrodysplasia ossificans progressiva (FOP) 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 radiologic manifestation of FOP passed from a sporadically affected father to each of his two children (a son and a daughter). Previous consideration of a genetic etiology was based on the fact that the disease has been reported in several sets of monozygotic twins and that increased paternal age has been associated with sporadic occurrence of the disorder. Although autosomal-dominant transmission has long been suspected, the findings in this family provide confirmation for such inheritance and a basis for the diagnosis and counseling of patients with FOP.

Keyword

Myositis; Genes and genetics

MeSH Terms

Child
Connective Tissue
Counseling
Diagnosis
Fascia
Fathers
Humans
Ligaments
Muscle, Skeletal
Myositis
Myositis Ossificans*
Ossification, Heterotopic
Paternal Age
Tendons
Toes
Twins, Monozygotic
Wills