Limb lengthening and correction of deformity in the lower limbs of children with osteogenesis imperfecta

2004 ◽  
Vol 86-B (2) ◽  
pp. 259-265 ◽  
Author(s):  
K. A. N. Saldanha ◽  
M. Saleh ◽  
M. J. Bell ◽  
J. A. Fernandes
Keyword(s):  
Osteogenesis Imperfecta ◽  
Limb Lengthening ◽  
Lower Limbs

scholarly journals Osteogenesis imperfecta: a case report

2014 ◽  
Vol 43 (1) ◽  
pp. 30-32
Author(s):  
Ratu Rumana Binte Rahman ◽  
Shamasunnahar Begum
Keyword(s):  
Osteogenesis Imperfecta ◽  
Pulmonary Hypoplasia ◽  
Bone Fragility ◽  
Lower Limbs ◽  
Inherited Disease ◽  
Multiple Fractures ◽  
X Ray ◽  
Medical College ◽  
Minimal Trauma ◽  
Hallmark Feature

Osteogenesis Imperfecta is a inherited disease of connective tissue. Its hallmark feature is bone fragility with a tendency to fracture from minimal trauma or from the work of bearing weight against gravity. The disorder may occur in one out of 20,000 to one out of 60,000 live births, affecting both male and female of all races. We present a 38 year lady who gave birth to baby with osteogenesis imperfecta in Sir Salimullah Medical College & Mitford Hospital, Dhaka. Both lower limbs appeared shortened with thick musculo-cutaneous folds. Both the femoral shafts were shortened, deformed and fragmented. Both the humeral and fibular shafts were deformed and the presentation was breech. Her sclerae was blue. X-ray showed multiple fractures in humerus, femur and ribs and also right sided pulmonary hypoplasia. DOI: http://dx.doi.org/10.3329/bmj.v43i1.21376 Bangladesh Med J. 2014 January; 43 (1): 30-32

scholarly journals Treatment of Varus Deformities of the Lower Limbs in Patients with Achondroplasia and Hypochondroplasia

2013 ◽  
Vol 7 (1) ◽  
pp. 33-39 ◽  
Author(s):  
Ali Al Kaissi ◽  
Sebastian Farr ◽  
Rudolf Ganger ◽  
Jochen G Hofstaetter ◽  
Klaus Klaushofer ◽  
...  
Keyword(s):  
Limb Lengthening ◽  
Varus Deformity ◽  
Clinical Problem ◽  
Valgus Deformity ◽  
Lower Limbs ◽  
Phenotypic Characterization ◽  
Complex Patients ◽  
Limb Deformities ◽  
Common Clinical Problem ◽  
Angular Deformities

Angular deformities of the lower limbs are a common clinical problem encountered in pediatric orthopaedic practices particularly in patients with osteochondrodysplasias. The varus deformity is more common than the valgus deformity in achondroplasia and hypochondroplasia patients because of the unusual growth of the fibulae than that of the tibiae. We retrospectively reviewed six patients (four patients with achondroplasia and two patients with hypochondroplsia) with relevant limb deformities due to the above-mentioned entities. All patients manifested significant varus deformity of the lower limbs. Detailed phenotypic characterization, radiologic and genetic testing was carried out as baseline diagnostic tool. We described the re-alignment procedures, which have been applied accordingly. Therefore, bilateral multi-level procedures, multi-apical planning and limb lengthening have been successfully applied. While recognition of the underlying syndromic association in patients who are manifesting angular deformities is the baseline for proper orthopaedic management, this paper demonstrates how to evaluate and treat these complex patients.

scholarly journals AB0728 OSTEOGENESIS IMPERFECTA: ABOUT 12 CASES

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1395.1-1395
Author(s):  
O. Jomaa ◽  
J. Mahbouba ◽  
S. Zrour ◽  
I. Bejia ◽  
M. Touzi ◽  
...  
Keyword(s):  
Lumbar Spine ◽  
Osteogenesis Imperfecta ◽  
Bone Densitometry ◽  
Calcium Supplementation ◽  
Hereditary Disease ◽  
Bone Fragility ◽  
Lower Limbs ◽  
Long Bone ◽  
Z Score ◽  
Average Serum

Background:Osteogenesis imperfecta (OI), is a rare hereditary disease characterized by bone fragility and low bone mass. The clinical presenatation is various with varying severity skeletal signs and inconstant extra-skeletal signs. Type 1 is the most common form (60% of cases).Objectives:Our objective is to describe the various clinical features observed over a period of 15 years.Methods:This is a retrospective descriptive study including 12 patients followed for OI, hospitalized in the Rheumatology Department at Fattouma Bourguiba Hospital Monastir TUNISIA between 2006 and 2019. Files were collected and analyzed.Results:They are 9 boys and 3 girls with an average age of 14.9 ± 8.6 years. Consanguinity was reported in 25% of cases. The reason leading to consultation was, recurrent fractures (75%), blue sclera (16.7), and bone deformity (8.3%). The number of previous fractures was on average of 5, all of which were caused by a low energy trauma. Similar family cases were noted in 41.6%. The mean age of the first fracture was 4.41 ± 3.2 years. The most frequent fracture sites were respectively: femur (7/12), leg (6/12), tibia (3/12), humerus (4/12), ankle (2/12), and forearm (2/12). A deformity was noted in 58.3% of the cases: lumbar kyphosis (2), exaggerated dorsal kyphosis (2), femurs in parenthesis (2), and an anarchic deformity of 2 lower limbs (1). Imperfect dentinogenesis was found in 8.3% of cases, while ENT examination revealed conductive and sensorineural hearing loss in 2 patients each. The main radiological abnormalities were diffuse bone demineralization (9 patients), cortical thinning (5 patients), vertebral compression (3 patients), and fracture (2 patients). The bone densitometry showed a mean Z score of 3.49±1.4 in the lumbar spine. The average serum calcium level was 2.38±1.15, alkaline phosphatases were elevated in all cases with an average of 756±624.9. The vitamin D level was deficient in all cases with an average of 22.75±5.3. All patients received in addition to the vitamin-calcium supplementation, pamidronate intravenously at a dose of 9mg/kg/year with a mean number of 6 cures. The main side effects observed during the infusion were abdominal pain, polyarthralgia and asthenia (1 patient), chest pain (1 patient) and fever and chills (1 patient). The control bone densitometry showed a mean Z score of 1.81±1.2 in the lumbar spine.Conclusion:Despite advances in the OI diagnosis and treatment, more research is needed. Bisphosphonate treatment decreases long-bone fracture rates, but such fractures are still frequent. New antiresorptive and anabolic agents are being investigated but efficacy and safety of these drugs, especially in children, need to be better established before they can be used in clinical practice.References:[1]https://doi.org/10.1097/med.0000000000000367Disclosure of Interests:None declared

scholarly journals Functional state of blood circulation and neuromuscular system of the lower limb of patients with congenital pseudarthrosis of the tibia after consolidation of the nonunion

2015 ◽  
Vol 3 (4) ◽  
pp. 6-11
Author(s):  
Aleksander Pavlovich Pozdeev ◽  
Ekaterina Anatolievna Zakharyan ◽  
Timur Faizovich Zubairov ◽  
Igor Evgenievich Nikityuk
Keyword(s):  
Functional State ◽  
Blood Circulation ◽  
Deformity Correction ◽  
Lower Extremities ◽  
Limb Lengthening ◽  
Lower Limbs ◽  
Neuromuscular System ◽  
Non Union ◽  
Congenital Pseudarthrosis ◽  
Consolidation Material

The aim of this study was to evaluate the clinical and functional state of the neuromuscular system and the blood supply to the lower limbs of children with congenital pseudarthrosis of the tibia (CPT) after consolidation. Material and Methods. A total of 100 patients with CPT were analyzed. We performed a clinical examination of patients, panoramic X-ray of the lower extremities, electroneuromyogram, and reovasography. Results and Conclusions. The primary complaints of patients with CPT after the consolidation of the non-union were lameness, deformations of lower extremities, and pain in the local joints. The electromyoneuromyogram data of the lower limbs of patients with CPT exhibited a decrease of the contractility of the muscles of the lower limbs, and neuropathy of the peroneal nerves of both lower limbs. The reovasography data of the lower limbs of patients with CPT displayed improvement in blood circulation in the lower extremities after the consolidation of the tibia. These data promote the current methods of treatment of patients with CPT; however, the temperature, degree of limb lengthening, and deformity correction should be considered in the future.

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta

2018 ◽  
Vol 55 (4) ◽  
pp. 278-284 ◽  
Author(s):  
Mathilde Doyard ◽  
Séverine Bacrot ◽  
Céline Huber ◽  
Maja Di Rocco ◽  
Alice Goldenberg ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Exome Sequencing ◽  
Bone Development ◽  
Early Death ◽  
Homozygosity Mapping ◽  
Lower Limbs ◽  
Pcr Analysis ◽  
Specific Expression ◽  
Exact Function ◽  
Blue Sclerae

BackgroundStüve-Wiedemann syndrome (SWS) is characterised by bowing of the lower limbs, respiratory distress and hyperthermia that are often responsible for early death. Survivors develop progressive scoliosis and spontaneous fractures. We previously identified LIFR mutations in most SWS cases, but absence of LIFR pathogenic changes in five patients led us to perform exome sequencing and to identify homozygosity for a FAM46A mutation in one case [p.Ser205Tyrfs*13]. The follow-up of this case supported a final diagnosis of osteogenesis imperfecta (OI), based on vertebral collapses and blue sclerae.Methods and resultsThis prompted us to screen FAM46A in 25 OI patients with no known mutations.We identified a homozygous deleterious variant in FAM46A in two affected sibs with typical OI [p.His127Arg]. Another homozygous variant, [p.Asp231Gly], also classed as deleterious, was detected in a patient with type III OI of consanguineous parents using homozygosity mapping and exome sequencing.FAM46A is a member of the superfamily of nucleotidyltransferase fold proteins but its exact function is presently unknown. Nevertheless, there are lines of evidence pointing to a relevant role of FAM46A in bone development. By RT-PCR analysis, we detected specific expression of FAM46A in human osteoblasts andinterestingly, a nonsense mutation in Fam46a has been recently identified in an ENU-derived (N-ethyl-N-nitrosourea) mouse model characterised by decreased body length, limb, rib, pelvis, and skull deformities and reduced cortical thickness in long bones.ConclusionWe conclude that FAM46A mutations are responsible for a severe form of OI with congenital bowing of the lower limbs and suggest screening this gene in unexplained OI forms.

scholarly journals Bone Lengthening with a Motorized Intramedullary Nail in 34 Patients with Posttraumatic Limb Length Discrepancies

2021 ◽  
Vol 10 (11) ◽  
pp. 2393
Author(s):  
Maxime Teulières ◽  
Tristan Langlais ◽  
Jérôme Sales de de Gauzy ◽  
Jan Duedal Rölfing ◽  
Franck Accadbled
Keyword(s):  
Weight Bearing ◽  
Limb Lengthening ◽  
Lower Limbs ◽  
Limb Length ◽  
Bone Lengthening ◽  
Important Conclusion ◽  
Pull Out ◽  
Significant Difference ◽  
The Mean

The Fitbone® motorized nail system has been used to correct limb length discrepancies (LLD) for several years. This study focuses on its application in posttraumatic limb lengthening surgery, its outcome and challenges. Materials and methods: A prospective, single center study was conducted between 2010 and 2019 in patients treated with motorized lengthening nails. The inclusion criteria were symptomatic LLD of 20 mm or more. An imaging analysis was done using TraumaCad® software (Brainlab AG, Munich, Germany) to compare frontal alignment angles and limb length discrepancy (LLD) on preoperative and latest follow-up radiographs of the lower limbs. Results: Thirty-four patients were included with a mean age of 28.8 ± 9.7 years, a mean follow-up of 27.8 ± 13 months and a mean hospital stay of 4.4 ± 1.7 days. The mean LLD was 44 ± 18 mm in 29 femoral and 32 ± 8 mm in 4 tibial cases, which was reduced to less than 10 mm in 25/34 (74%) patients. The mean healing index was 84.6 ± 62.5 days/cm for femurs and 92 ± 38.6 days/cm for tibias. The mean time to resume full weight-bearing without walking aids was 226 days ± 133. There was no significant difference between preoperative and final follow-up alignment angles and range of motion. The mechanical lateral distal femoral angle (mLDFA) was corrected in the subgroup of 10 LLD patients with varus deformity of the femur (preoperative 95.7° (±5.0) vs. postoperative 91.5° (±3.4), p = 0.008). According to Paley’s classification, there were 14 problems, 10 obstacles and 2 complications. Discussion: Six instances of locking screw pull out, often requiring reoperation, raise the question of whether a more systematic use of blocking screws that provide greater stability might be indicated. Lack of compliance can lead to poor outcomes, patient selection in posttraumatic LLD patients is therefore important. Conclusion: Limb lengthening with a motorized lengthening nail for posttraumatic LLD is a relatively safe and reliable procedure. Full patient compliance is crucial. In-depth knowledge of lengthening and deformity correction techniques is essential to prevent and manage complications.

scholarly journals Short-term comparison of the use of static and expandable intramedullary rods in the lower limbs of children with osteogenesis imperfecta

2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Louis J de Jager ◽  
Pieter Η Mare ◽  
David Μ Thompson ◽  
Leonard C Marais
Keyword(s):  
Osteogenesis Imperfecta ◽  
Complication Rate ◽  
Lower Limb ◽  
Reoperation Rate ◽  
Lower Limbs ◽  
Short Term ◽  
Frequent Complication ◽  
Increased Risk ◽  
Intramedullary Rodding

ABSTRACT BACKGROUND: Children with osteogenesis imperfecta suffer from frequent fractures and deformities due to skeletal fragility. Stabilisation of fractures, correction of deformity and intramedullary rodding result in decreased pain and improved function. Modern expandable intramedullary rods aim to provide lasting stability during growth, without an increase in complications. The aim of our study was to determine and compare the outcome of static Rush rods and expandable Fassier-Duval rods in terms of complications and reoperation rate. METHODS: We reviewed the records of a cohort of 17 children (seven female) with osteogenesis imperfecta (11 Sillence type III, six Sillence type IV) who were treated with intramedullary rods in the lower limb between 2011 and 2017. They had 64 rodding (38 femoral and 26 tibial) procedures (26 Rush rods and 38 Fassier-Duval rods). These were a primary procedure in 46, and a revision procedure after previous Rush rodding in 18 cases. RESULTS: The overall complication rate was 66% (n=42). There was a higher complication rate in the Rush rod group (81%, n=21) when compared to the Fassier-Duval group (55%, n=21)(p=0.035). The most frequent complication in the Rush rod group was distal deformity as the rod is outgrown (69%, n=18). The most frequent complication in the Fassier-Duval rod group was intramedullary migration due to a failure to expand (45%, n=17). Factors that were associated with increased risk of complications included younger age (p=0.031), type of rod (p=0.035), and deformity as an indication for surgery (77% complications, p=0.033). At a mean follow-up of 3.1 years, the reoperation rate in the Rush rod group was 58% (n=15). Comparatively, at a mean of 3.7 years follow-up, there were no reoperations in the Fassier-Duval group. CONCLUSIONS: Despite the numerous innovations, the surgical management of lower limb deformities and fractures in children with osteogenesis imperfecta remains challenging with a relatively high complication rate. The use of Fassier-Duval rods may result in a lower reoperation rate when compared to Rush rods, in the short term. Level of evidence: Level 4 Keywords: osteogenesis imperfecta, intramedullary rod, Rush rod, Fassier-Duval rod, fracture, deformity

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