scholarly journals Swellings over the Limbs as the Earliest Feature in a Patient with Osteogenesis Imperfecta Type V

2014 ◽  
Vol 2014 ◽  
pp. 1-4
Author(s):  
Ali Al Kaissi ◽  
Rudolf Ganger ◽  
Klaus Klaushofer ◽  
Franz Grill
Keyword(s):  
Osteogenesis Imperfecta ◽  
Physical Abuse ◽  
Child Physical Abuse ◽  
Lower Limbs ◽  
Osteogenesis Imperfecta Type ◽  
Dentinogenesis Imperfecta ◽  
Wormian Bones ◽  
One Year ◽  
Type V ◽  
Hyperplastic Callus

Swellings over the upper and lower limbs were encountered in a one-year-old child. Skeletal survey showed a constellation of distinctive radiographic abnormalities of osteoporosis, hyperplastic callus and ossification of the interosseous membrane of the forearm, femora, and to lesser extent the tibiae. Neither wormian bones of the skull nor dentinogenesis imperfecta was present. Genetic tests revealed absence of mutation in COL1A1 or COL1A2 genes, respectively. The overall phenotypic features were consistent with the diagnosis of osteogenesis imperfecta type V (OI-V). The aim of this paper is to distinguish between swellings because of intrinsic bone disorders and these due to child physical abuse.

scholarly journals Case Report: Hyperplastic Callus of the Femur Mimicking Osteosarcoma in Osteogenesis Imperfecta Type V

2021 ◽  
Vol 12 ◽  
Author(s):  
Ying Deng ◽  
Yanan Huo ◽  
Jinfeng Li
Keyword(s):  
Genetic Testing ◽  
Osteogenesis Imperfecta ◽  
Callus Formation ◽  
Genetic Diagnosis ◽  
Rapid Progression ◽  
Osteogenesis Imperfecta Type ◽  
History Of ◽  
Type V ◽  
Hyperplastic Callus

BackgroundOsteogenesis imperfecta (OI) type V is a rare form of OI which is often characterized by hyperplastic callus. Misdiagnosis is a possibility due to its rarity and because patients involved are mostly in adolescence, a predisposing age for osteosarcoma. Here, we report this case and aim to improve understanding of patients with OI type V and avoid misdiagnosis.Case PresentationA male, 14-year-old patient was admitted to Jiangxi Provincial People’s Hospital affiliated to Nanchang University in August 2020 due to repeated fractures for more than 11 years and swelling in his right leg for more than 4 years. The patient was diagnosed with OI in 2014 due to repeated fracture and was treated with bisphosphonates. The swelling was accompanied by huge callus formation. Prior to admission to our hospital in 2016 osteosarcoma was suspected by imaging and pathology, and amputation was recommended. OI-V was confirmed after more than four years of follow-up and genetic diagnosis, and the affected limb was preserved.ConclusionThe history of OI and lack of rapid progression suggested OI-V with a hyperplastic callus. Combined with genetic testing, the diagnosis was OI-V. Although the patient was at a predisposing age for osteosarcoma, diagnosis and treatment should be based on the medical history of the patient, imaging,and genetic testing, and sometimes even time-consuming retrospective observation.

scholarly journals Dental and facial characteristics of osteogenesis imperfecta type V

2018 ◽  
Author(s):  
Jean-Marc Retrouvey ◽  
Doaa Taqi ◽  
Faleh Tamimi ◽  
Didem Dagdeviren ◽  
Francis H. Glorieux ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Permanent Teeth ◽  
Osteogenesis Imperfecta Type ◽  
Dentinogenesis Imperfecta ◽  
Missing Teeth ◽  
Lower Face ◽  
Face Height ◽  
Maxilla And Mandible ◽  
Type V ◽  
Study Participants

AbstractOsteogenesis imperfecta (OI) type V is an ultrarare heritable bone disorder caused by the heterozygous c.-14C>T mutation in IFITM5. The dental and craniofacial phenotype has not been described in detail. In the present multicenter study (Brittle Bone Disease Consortium) 14 individuals with OI type V (age 3 to 50 years; 10 females, 4 males) underwent dental and craniofacial assessment. None of the individuals had dentinogenesis imperfecta. Six of the 9 study participants (66%) for whom panoramic radiographs were obtained had at least one missing tooth (range 1 to 9). Class II molar occlusion was present in 8 (57%) of the 14 study participants. The facial profile was retrusive and lower face height was decreased in 8 (57%) individuals. Cephalometry, performed in three study participants, revealed a severely retrusive maxilla and mandible, and poorly angulated incisors in a 14-year old girl, a protrusive maxilla and a retrusive mandible in a 14-year old boy. Cone beam computed tomograpy scans were obtained from two study participants and demonstrated intervertebral disc calcification at the C2-C3 level in one individual. Our study observed that OI type V is associated with missing permanent teeth, especially permanent premolar, but not with dentinogenesis imperfecta. The pattern of craniofacial abnormalities in OI type V thus differs from that in other severe OI types, such as OI type III and IV, and could be described as a bimaxillary retrusive malocclusion with reduced lower face height and multiple missing teeth.

Hyperplastic callus formation in osteogenesis imperfecta type V mimicking osteosarcoma: 4-year follow-up with resolution

2006 ◽  
Vol 35 (6) ◽  
pp. 402-405 ◽  
Author(s):  
R. L. V. Vieira ◽  
D. T. Amaral ◽  
Filho R. Jesus-Garcia ◽  
G. Saraiva ◽  
A. R. C. Fernandes ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Callus Formation ◽  
Osteogenesis Imperfecta Type ◽  
Type V ◽  
Hyperplastic Callus Formation ◽  
Hyperplastic Callus
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