title: Fibrodysplasia ossificans progressiva in two half-sisters: evidence for maternal mosaicism.
abstract: Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of connective tissue characterized by congenital malformation of the great toes and by progressive heterotopic ossification of the soft tissues in specific anatomic and temporal patterns. We observed classic findings of FOP in 2 Native American half-sisters with the same unaffected mother and different unaffected fathers. This is the first report of FOP in sibs from different pregnancies with unaffected parents. The findings in this family indicate the possibility of maternal gonadal mosaicism in FOP and provide important new data for genetic counseling in this disease.
authors.affiliation: Department of Orthopaedic Surgery, University of Pennsylvania School of Medicine, Philadelphia, USA.
authors.forename: H B
authors.initials: HB
authors.lastname: Janoff
authors.forename: M
authors.initials: M
authors.lastname: Muenke
authors.forename: L O
authors.initials: LO
authors.lastname: Johnson
authors.forename: A
authors.initials: A
authors.lastname: Rosenberg
authors.forename: E M
authors.initials: EM
authors.lastname: Shore
authors.forename: E
authors.initials: E
authors.lastname: Okereke
authors.forename: M
authors.initials: M
authors.lastname: Zasloff
authors.forename: F S
authors.initials: FS
authors.lastname: Kaplan
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009030:Mosaicism; D009221:Myositis Ossificans / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D011859:Radiography; D014034:Toes / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology