Osteogenesis imperfecta and hyperplastic callus formation in a family: a report of three cases and a review of the literature

Ramírez, Norman; Vilella, Fernando E.; Colón, Mirylsa; Flynn, John M.

doi:10.1097/00009957-200303000-00002

Cited by 11 publications

(6 citation statements)

References 36 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…HC formation of the long bone is one of the widely used criteria in the literature for the radiographic diagnosis of OI type V [Nakamura et al, ; Rieker et al, ; Dobrocky et al, ; Smith, ; Ramirez et al, ; Cheung et al, ]. In our cohort, HC was found in 12 of 16 patients (75%), a higher frequency than reported previously [Cheung et al, ].…”

Section: Discussionmentioning

confidence: 41%

Osteogenesis imperfecta type V: Clinical and radiographic manifestations in mutation confirmed patients

Kim

Jin

Kosaki

et al. 2013

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Osteogenesis imperfecta (OI) type V is a specific OI phenotype with interosseous membrane calcification of the forearm and hyperplastic callus formation as typical features. The causative gene mutation for OI type V has been recently discovered. The purpose of this report is to review the clinical and radiographic characteristics of mutation confirmed OI type V in detail. Sixteen (nine familial and seven sporadic) patients were enrolled in the study. Blue sclera and dentinogenesis imperfecta were not evident in any patient. However, hypodontia in the permanent teeth, ectopic eruption, and short roots in molars were additionally observed in 11 patients. Of the radiographic abnormalities, cortical thickening and bony excrescence of interosseous margin of the ulna was the most common finding, followed by overgrowth of the olecranon and/or coronoid process of the ulna. Slender ribs and sloping of the posterior ribs with or without fractures were also a consistent finding. Hyperplastic callus was detected in 75% of patients and was commonly encountered at the femur. Heterotopic ossification in the muscles and tendon insertion sites were noted in four patients, which resulted in bony ankylosis or contracture of joints. The current study confirms common clinical and radiographic findings of OI type V and reports additional phenotypic information. These observations provide clues to recognize OI type V more promptly and guide to direct targeted molecular study. © 2013 Wiley Periodicals, Inc.

show abstract

Section: Discussionmentioning

confidence: 41%

Osteogenesis imperfecta type V: Clinical and radiographic manifestations in mutation confirmed patients

Kim

Jin

Kosaki

et al. 2013

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…Definition for this subtype was based on the recognition of the frequent occurrence of HPC in a group of patients that were initially categorized as Sillence type IV disease. Subsequent literature includes a cohort study on 12 Korean patients, a summary of the response to treatment with bisphosphonates, a description of the natural history of HPC in type V patients, and just recently, the identification of the gene by two groups …”

Section: Discussionmentioning

confidence: 99%

Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM 5 Mutation

Shapiro

Lietman

Grover

et al. 2013

Journal of Bone and Mineral Research

View full text Add to dashboard Cite

In a large cohort of osteogenesis imperfecta type V (OI type V) patients (17 individuals from 12 families), we identified the same mutation in the 5′ untranslated region (5′UTR) of the interferon-induced transmembrane protein 5 (IFITM5) gene by whole exome and Sanger sequencing (IFITM5 c.–14C > T) and provide a detailed description of their phenotype. This mutation leads to the creation of a novel start codon adding five residues to IFITM5 and was recently reported in several other OI type V families. The variability of the phenotype was quite large even within families. Whereas some patients presented with the typical calcification of the forearm interosseous membrane, radial head dislocation and hyperplastic callus (HPC) formation following fractures, others had only some of the typical OI type V findings. Thirteen had calcification of interosseous membranes, 14 had radial head dislocations, 10 had HPC, 9 had long bone bowing, 11 could ambulate without assistance, and 1 had mild unilateral mixed hearing loss. The bone mineral density varied greatly, even within families. Our study thus highlights the phenotypic variability of OI type V caused by the IFITM5 mutation.

show abstract

“…These observations confirm and extend the findings described in case reports and small case series. (10)…”

Section: Discussionmentioning

confidence: 99%

“…Earlier authors have attempted to treat HPCs with immobilization, steroids, or radiotherapy at the early stage of development, but none of these approaches have been tested in a systematic fashion. (10,17) Thus, it is unclear at present whether any medical intervention changes the natural history of HPC.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Natural History of Hyperplastic Callus Formation in Osteogenesis Imperfecta Type V

Cheung

Glorieux

Rauch

2007

Journal of Bone and Mineral Research

View full text Add to dashboard Cite

Hyperplastic callus formation was assessed in 23 patients with osteogenesis imperfecta type V. Hyperplastic callus mostly affected long bones in the lower extremities and occurred predominantly during phases of rapid growth.Introduction: Hyperplastic callus (HPC) formation is one of the most conspicuous features of osteogenesis imperfecta (OI) type V, but the natural history of HPC has not been well characterized. Materials and Methods:In this retrospective single-center study, we assessed HPC in 23 OI type V patients (9 females and 14 males). Results: Fifteen patients (65%) had HPC at 48 skeletal sites, 30 of which affected the lower limbs. The number of HPC sites per patient ranged from 0 to 7, with an average of 2.6 for men and 1.1 for women (p ‫ס‬ 0.047 for this sex difference; t-test). New HPC formation was observed both after fractures and outside of the context of fractures. Only a minority of lower limb fractures (26%) precipitated HPC formation. After an initial enlargement phase, HPC lesions usually stabilized, but could also resolve completely (n ‫ס‬ 2) or progress and lead to bone deformation. The most common complication of HPC was a fracture through the lesion (n ‫ס‬ 7). Neither pamidronate nor indomethacin seemed to influence the course of HPC. Conclusions: HPC is a potentially serious complication of OI type V. Given the rarity of the disorder, treatment studies will require multicenter collaborations.

show abstract

Osteogenesis imperfecta and hyperplastic callus formation in a family: a report of three cases and a review of the literature

Cited by 11 publications

References 36 publications

Osteogenesis imperfecta type V: Clinical and radiographic manifestations in mutation confirmed patients

Osteogenesis imperfecta type V: Clinical and radiographic manifestations in mutation confirmed patients

Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM 5 Mutation

Natural History of Hyperplastic Callus Formation in Osteogenesis Imperfecta Type V

Contact Info

Product

Resources

About