Identification of pathogenic variants in three Chinese patients with McCune-Albright syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for three Chinese patients with McCune-Albright syndrome (MAS).@*METHODS@#Three children who had respectively presented at Shandong Provincial Hospital in April 2019 and Peking Union Medical College Hospital in August 2020 and May 2021 were selected as the research subjects. Peripheral blood samples of the probands and their family members were taken for the extraction of genomic DNA. Potential variants were screened by whole exome sequencing (WES), and candidate variants were validated by Sanger sequencing of the patients and their family members.@*RESULTS@#The proband from family 1 was found to harbor a heterozygous c.601C>T (p.R201C) missense variant in exon 8 of the GNAS gene, whilst the probands from families 2 and 3 were both found to harbor a heterozygous c.602G>A (p.R201H) missense variant in exon 8 of the GNAS gene. Both variants were known to be pathogenic, and all probands were found to be mosaics for the corresponding variants but with various degrees.@*CONSLUSION@#WES can effectively diagnose MAS and other somatic genetic disorders. In this study, the combined WES and Sanger sequencing have verified the degree of mosaicisms of pathogenic variants in the three MAS patients, albeit no apparent correlation was found between the degree of mosaicisms and the phenotype of patients. Above finding has provided a basis for genetic counseling and prenatal diagnosis for the affected families.

The efficacy of telescopic intramedullary rod for treatment of femur fracture or deformity correction in children with osteogenesis imperfecta / 中华骨科杂志

Objective To evaluate the safety and efficacy of telescopic intramedullary rod for treatment of femur fracture or deformity correction in children with osteogenesis imperfecta,and to analysis the result of prevention recurrent fracture as well as the complication.Methods Data of patients who were treated by telescopic intramedullary rod for recurrent femur fracture or curved femoral deformity from March 2015 to December 2015 were prospectively analyzed.There were 39 boys and 26 girls.The average age of the patients was 9 years 2 months,ranging from 3 years 5 months to 13 years 4 month.All the patients had suffered from recurrent femur fractures leading to femoral deformity.The mean angulation angle was 58° (range,30°-95°).Among 69 sides,there were 21 sides of new fracture and 48 sides of deformity.Sixty-one patients were operated at one side and the other 4 patients were treated bilaterally.According to the modified Sillence classification system,there were 5 cases of type Ⅰ,17 type Ⅲ,34 type Ⅴ,3 type Ⅴ,2 type Ⅵ and 4 type ⅩⅤ.Results All the 65 patients were followed up for a mean period of 32 months (range,15-43).The average healing time of the osteotomy site or fracture site of the femur was 8 weeks (range,7-12).The patient was encouraged to begin weight bearing and walking when the Ⅹ-ray film showed healing of the osteotomy or fracture site.By the latest follow up,80％ of the patients could stand and walk independently,The incidence of femur fracture decreased significantly to the level of 0.5±0.2/year,compared to 2.7±1.8/year before operation.All the parents of the children were satisfied with the result of deformity correction.The children's self care and motion ability improved obviously after operation.During follow up,6 patients suffered from recurrent fracture of the femur by various degree,1 of them was treated by open reduction and telescopic rodding surgery,while the other 5 patients were treated conservatively because the fracture displaced or angulated minimally and 4 patients healed uneventfully while 1 patient need plate fixation to augment the axial stability.In 3 patients (1 type Ⅳ,2 type Ⅲ) the intubator failed to elongate with the growth of the distal femoral epiphysis,and in 2 patients the obturator migrated proximally which needed to be re-fixed.Low toxic infections occurred in 2 patients (type Ⅵ) which were treated successfully by removal of the rod and antibiotics.Conclusion The telescopic intramedullary rod can maintain the correction of the femur deformity and improve the quality the bone,thus prevent the recurrent fracture of the femur in children with osteogenesis imperfecta effectively.

Therapeutic effect of Peter-Williams intramedullary nail in children with tibia fracture due to osteogenesis imperfecta / 中华实用儿科临床杂志

Objective To study the method and therapeutic effect of Peter-Williams intramedullary nail in children with tibia fracture due to osteogenesis imperfecta.Methods A total of 30 children of tibia fracture due to osteogenesis imperfecta,including 17 males and 13 females in Department of the Third Orthopaedics and Osteogenesis Imperfecta Center,Tianjin Wuqing District People's Hospital from June 2015 to January 2017,were operated on the shaft of tibia with Peter-Williams intramedullary nail.Twelve cases were left tibia fracture,13 cases were right tibia fracture,and 5 cases were bilateral tibia fracture.Twenty of 35 tibias were accompanied with no tibial deformity,and 15 of 35 tibias were accompanied with different degrees of anterior arch bowing deformity.The movement and life self-care ability were evaluated according to Functional independence measure (WeeFIM) evaluation form.Results All of the children were followed up for an average of 18 months(ranging from 10 to 26 months).The average operating time was 1.2 hours(0.75-2.50 hours).The average bleeding was 60 mL(30-100 mL).The average bone healing time was 10 weeks (8-16 weeks).Patients began to exercise on bed after removing plaster,and to walk after X-ray showing bone healing.Parents of all children were satisfied with surgical operation,and the WeeFIM score was improved by (60.76 ± 15.57) scores (64-85 scores) preoperatively to (82.00 ± 7.50) scores (75-91 scores) postoperatively.There was a statistically significant difference in scores before and after the treatment(t =2.765,P =0.003).There was no infection,osteomyelitis,nerve damage,or vascular damage.Conclusions Therapy of Peter-Williams intramedullary nail in children with tibia fracture due to osteogenesis imperfect is advantaged.It causes less blood,less damage,with no intruding joint,correcting deformity and improving lower limb functions and life quality.

Genetic mutation and clinical features of osteogenesis imperfecta type V / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore genetic mutations and clinical features of osteogenesis imperfecta type V.</p><p><b>METHODS</b>Clinical record of five patients (including one familial case) with osteogenesis imperfecta type V were retrospectively analyzed. Peripheral blood samples of the patients, one family member, as well as healthy controls were collected. Mutation of IFITM5 gene was identified by PCR amplification and Sanger sequencing.</p><p><b>RESULTS</b>A heterozygous mutation (c.-14C>T) in the 5-UTR of the IFITM5 gene was identified in all of the patients and one mother. The clinical findings included frequent fractures and spine and/or extremities deformities, absence of dentinogenesis imperfecta, absence of hearing impairment, and blue sclera in 1 case. Radiographic findings revealed calcification of the interosseous membrane between the radius-ulna in all cases. Hyperplastic callus formation was found in 3 cases. Four had radial-head dislocation.</p><p><b>CONCLUSION</b>A single heterozygous mutation c.-14C>T was found in the 5-UTR of the IFITM5 gene in 5 patients with osteogensis imperfecta type V. The patients showed specific radiological features including calcification of interosseous membrane, hyperplastic callus formation, and radial-head dislocation.</p>

Telescopic intramedullary rod for prevention of recurrent femur fracture in children with osteogenesis imperfecta / 中华骨科杂志

Objective To evaluate the efficacy of prevention of recurrent femur fracture in children with osteogenesis imperfecta.Methods Data of 35 patients (19 boys,16 girls) who were treated for femur deformity due to osteogenesis imperfecta at our hospital from Jun 2009 to Jun 2013 were retrospectively analyzed.The average age of the patients was 9 years 3 months,ranging from 3 years 6 months to 13 years 1 month.All the patients had suffered from recurrent femur fractures before which led to femoral deformity.The mean angulation angle was 55° (range,10°-90°).10 patients were operated at one side;the other 25 patients were treated bilaterally.None of them received operation before for fractures.The average incidence of femur fracture before operation was 2.4/year (range,2-4).According to the modified Sillence classification system,9 were type Ⅲ OI,14 type Ⅳ,and 12 type I.The curved deformity of the femurs were corrected by osteotomy and stabilized by telescopic intramedullary rods in 35 patients.Results All the 35 patients were followed up for a mean period of 62 months (range,36-72).The average healing time of the osteotomy site of the femur was 8.5 weeks (range,7-12).The patient was encouraged to begin weightbearing and walking when the Xray film showed healing of the osteotomy site.By the latest follow up,80％ of the patients could stand and walk independently.The incidence of femur fracture decreased significantly to the level of 0.3±0.1/year,compared with the level of 2.4± 1.3/year before operation.All the parents of the children were satisfied with the result of deformity correction.At the latest follow up,the Barthel index score increased from 71.82 (range,51-92) before operation to 92.32 (range,82-100) postoperatively,while the WeeFIM score increased from 53.32 (range,42-72) before operation to 78 (range,70-86) postoperatively.The difference of Barthel index score and WeeFIM score between that before and post operation was significant.The children's selfcare and motion ability improved obviously after operation.During follow up,22 patients suffered from recurrent fracture of the femur by various degree,7 of them were treated by open reduction and telescopic rodding surgery,while the other 15 patients were treated conservatively because the fracture displaced or angulated minimally and the fracture healed uneventfully.Conclusion The telescopic intramedullary rod can maintain the correction of the femur deformity and improve the quality of the bone,thus prevent the recurrent fracture of the femur in children with osteogenesis imperfecta effectively.

Specific clinical and imaging features of osteogenesis imperfecta V / 中华放射学杂志

Objective To evaluate specific clinical and imaging features of osteogenesis imperfecta V and to improve diagnostic accuracy of this disease. Methods Data of 15 patients with osteogenesis imperfecta type V were retrospectively analyzed for their clinical and imaging features. There were 10 males and 5 females, aged from 1 year and 30 years old (median age,12.5 years ). All 15 patients had plain X-ray, and 4 of 15 had CT. All data were analyzed by 3 experienced deputy chief doctors in OI according to OI V standard. Results X-ray:calcification of the interosseous membrane between radius-ulna was detected in all patients and calcification of the interosseous membrane between tibia-fibula was detected in 2 of 15 patients. Dislocation of the radial head was seen in 13 of 15 patients,bilateral in 9 and utilateral in 4.All patients showed restriction in the pronation and supination of the forearm and restricton in the flexion and extention of the elbow joint. Patients with dislocation of raidal head were associated with large coronoid process and olecranon of the ulna. Hyperplastic callus of the extremities were detected in 7 of 15 patients (7 at femur , 3 at humerus, 1 at tibia.In early stage, hyperplastic callus showed thin cortice, and clear boundares with the diaphysis showing and low density, irregular, mesh-like lamellation inside. In the later stage, there were dense calcification inside hyperplastic callus, and no difference in density with the diaphysis. Diaphysis surrounded by hyperplastic callus had clear boundaries with the hyperplastic callus. No cortical destruction was detected. CT:there were sparse needle-dot calcification inside hyperplastic callus, with the patterns of granular, ring-and-arch,irregular streaky mineralization. The cross section of proximal femoral shaft showed irregular shape , flat square shape and tiny medullary cavity, with no calcification on the edge of hyperplastic callus. CT value:-91 HU inside hyperplastic callus; 283 HU in femoral shaft. Conclusions Interosseous membrane between radius-ulna or tibia-fibula, hyperplastic callus ,dislocation of the radial head are specific features in osteogenesis imperfecta V. X-ray can make a definitive diagnosis of osteogenesis imperfecta V. CT scan is helpful in the differential diagnosis of osteogenesis imperfecta V from osteosarcoma.

Analysis of type IV osteogenesis imperfecta caused by two mutations occurred simultaneously in COL1A1 gene in a Chinese child / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect potential mutations of COL1A1 and COL1A2 genes with polymerase chain reaction-high-resolution melting analysis(PCR-HRMA) in a proband diagnosed with osteogenesis imperfecta (OI).</p><p><b>METHODS</b>Peripheral blood samples were collected from the proband and members of his family as well as healthy controls. The mutations were detected by PCR-HRMA and confirmed by direct sequencing. Potential effects of the mutations were predicted using softwares including PolyPhen, SIFT and Align GVGD.</p><p><b>RESULTS</b>The PCR-HRMA has indicated mutations in exon 45 of the COL1A1 gene in the proband as well as his parents, which were presented as the difference in the melting curves between the patients and the control samples. Sequencing analysis confirmed that the proband has carried two heterozygous mutations (c.3235G>A, p.Gly1079Ser and c.3247G>A, p.Ala1083Thr) in exon 45 of the COL1A1 gene. Among them, c.3235G>A was predicted to have impeded alpha helix structure domain, which was inherited from the father who also had OI. c.3247G>A was inherited from mother who had a normal phenotype. All three softwares predicted that the c.3235G>A mutation can interfere with the function of the protein, while the c.3247G>A may have a benign effect by PolyPhen analysis.</p><p><b>CONCLUSION</b>The study identified two mutations (c.3235G>A and c.3247G>A) occurred simultaneously in COL1A1 gene in a case. The case is the first reported in human collagen mutation database. As identified,mutation of c.3235G>A may be the major cause of the disease in the proband.</p>

Analysis of gross deletions of COL1A1/2 genes in Chinese families affected with osteogenesis imperfecta / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify deletion of large fragment in COL1A1/2 genes among patients with osteogenesis imperfecta (OI).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples by a standard SDS-proteinase K-phenol/chloroform method. Multiplex ligation-dependent probe amplification (MLPA) was performed to detect gross deletions of the COL1A1/2 genes among 46 patients affected with OI, in whom no mutation was detected in the sequences of the COL1A1/2 genes.</p><p><b>RESULTS</b>Heterozygous deletions of the entire COL1A1 gene and exon 20 of the COL1A2 gene were detected in probands A and B, respectively, and no gross deletion was found in the remaining 44 samples. The MLPA result of proband A was confirmed by fluorescence quantitative PCR (Q-PCR) in his family. A further conjunction point analysis through gap-PCR and DNA sequencing revealed deletion of exons 17 to 23 in the COL1A2 gene, and a 637 bp-insertion from chromosome 5 in the proband B.</p><p><b>CONCLUSION</b>Two gross deletions have been found in the genes coding for collagen type I in the Chinese OI population, and the deletion of exons 17 to 23 in the COL1A2 gene is a novel mutation. This work not only has expanded the mutation spectrum of the COL1A1/2 gene, but also provided a support for prenatal genetic diagnosis for the families.</p>

Qualitative research on the psychological feeling of mothers of children with osteogenesis imperfecta during treatment / 中国实用护理杂志

Objective To understand the feeling of mothers of children with osteogenesis imperfecta during the accompany of children's diagnosis and treatment.Methods A total of 20 mothers of children with osteogenesis imperfecta participated the semi-structured interview.The data were analyzed by Colaizzi's method of phenomenology.Results Three themes were acquired including heavy psychological burden,facing multiple pressure and mother's support through analysis,reorganization and extraction of the subjects.Conclusions Mothers of children with osteogenesis imperfecta needed humanistic concern and emotional support.Nursers should adopted personalized care measures to improve their quality of life.

Screening and analysis of a new mutation of COL1A1 gene in a family with osteogenesis imperfecta / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate mutation of COL1A1 gene and analyze the relationship between genotype and clinical phenotype in a family with osteogenesis imperfecta (OI).</p><p><b>METHODS</b>The family history of an OI pedigree, along with clinical data, was collected. Blood samples from the proband and his families, as well as 50 normal controls, were collected. Mutation of COL1A1 gene was screened using PCR-high resolution melting (PCR-HRM) and validated by sequencing.</p><p><b>RESULTS</b>PCR HRM method showed an abnormal result in proband COL1A133_34 exons, which Tm was 87.7℃, in contrast to the normal control (wt) Tm of 87.9±0.06℃. There was a significant difference between the proband and the normal control with the standardization curve and the difference curves. DNA sequencing showed that Y9COL1A1 gene exons 33_34 has lost a C base (c.2321delC), which resulted in a frameshift mutation and caused an premature termination codon (UAA) at amino acid 334, i.e., p.Pro774LeufsX334 The father and grandfather of the proband, both suffered from OI, were verified to be heterozygous for the same mutation. The same mutation was not found in 50 normal controls. Database search confirmed this to be a novel mutation. Pedigree analysis suggested that it has an autosomal dominant inheritance. The proband and patients from the family were clinically diagnosed as OI type I.</p><p><b>CONCLUSION</b>The study has identified a novel mutation of COL1A1 gene, c.2321delC. This frameshift mutation has caused a premature stop codon and reduced collagen type synthesis, characterized by a lighter OI clinical phenotype.</p>

Treatment with peter-williams intramedullary nail on children with humerus deformity due to osteogenesis imperfecta / 中华实用儿科临床杂志

Objective To evaluate the therapeutic effect with peter-williams intramedullary nail on children with humerus deformity due to osteogenesis imperfecta.Methods Data of 9 patients with humerus deformity due to osteogenesis imperfecta were retrospectively analyzed from Jun.2009 to Dec.2012.There were 7 males and 2 females,aged from 6 years to 10 years and 7 months(average 8 years and 3 months).There were 7 unilateral humerus deformity and 2 bilateral humerus deformity with severe radius and ulna deformity.The humerus fracture frequency was from 4 to 13 times (average,7.9 times)There were 2-3 deformity points in 9 patients (average 2.09 deformity points).The deformity angle ranged from 20°-100° (average 57.3°).The Constant-Murley scores were 16-24 scores (average 20.44).According to revised Sillence classifications,there were 6 cases of Type Ⅲ and 3 cases of Type Ⅳ.Eleven humerus of 9 patients were osteotomied and fixed with peter-williams intramedullary nail.Results All of 9 children were followed up for 12-66 months(average 22 months).The bone healing time were 8-12 weeks (average 9.5 weeks).Parents of 9 children were satisfied with surgical operation effect and deformity correction.The Constant-Murley scores ranged from preoperative average of (20.44 ± 2.79) points (16-24 points) to postoperative average of (35.56 ± 2.60) points(30-38 points) at the latest follow-up of patients,there was a statistically significant in score before and after treatment(t =0.20,P ＜0.05).Number 4 patient,one patient was found suffering from dorsal thumb numbness postoperatively after 3 days back stretching limitation.Considering the radial nerve stretching injury,treatment with neurotrophic drug for 3 months,symptoms disappeared.There was no infection,or osteomyelitis,no vascular damages.Epiphyseal plate injury or premature closure and affecting growth were not found in all of the patients at the latest follow-up examination.Conclusions Treatment with osteotomy and peter-williams intramedullary nail fixation on children with humerus deformity due to osteogenesis imperfecta is advantaged.It gets less damages,no intruding shoulder joint,less bleeding.The greatest degree of correction of the deformity can be achieved,and the shoulder joint function and the quality of life can be improved.

PCR-HRM Analysis for Gene Mutation Screening in a Child with Osteogenesis Imperfecta / 天津医药

Objective To investigate COL1A1 gene mutation by PCR-high resolution melting (PCR-HRM) and an-alyze the correlation between genotype and clinical phenotype in a child (proband) with osteogenesis imperfecta (OI). Methods The family history of OI pedigree along with the clinical data was collected. Blood samples from the proband and his family members, as well as 50 normal controls, were collected. The mutation of COL1A1 gene was screened using PCR-HRM and validated by the gene sequence. Results The detection of PCR-HRM showed the abnormal result of COL1A1 17 exon in proband with a lower melting temperature (Tm) value than that of normal controls by 0.4℃. There were signifi-cant differences in the standardization melting curve and the different melting curve between the proband and the normal controls. The sequencing result was c.1138G>A, which meant that cDNA of 1138 base G mutation into A. The mutations transformed the amino acid glycine into a serine at amino acid 380(P. Gly 380 Ser), which resulted in missense mutations. The proband’s father and grandmother had the same mutation of COL1A1 gene. The mutation was not found in the proband’s mother and normal controls. There was no report for such mutation in Chinese population. Pedigree analysis showed the fami-ly genetic characteristics of autosomal dominant inheritance. The proband was clinically diagnosed as OI type Ⅳwith more severe clinical phenotype. Conclusion PCR-HRM analysis is a new effective method for genetic screening of OI. COL1A1 mutation of c.1138G>A is a newly discovered mutation in Chinese population. Gly replaced inαhelical domain may lead to a more severe clinical phenotype.

Use of minimally invasive operation therapy with extended intramedullary nail on children with femoral fracture and deformity due to osteogenesis imperfecta / 中华骨科杂志

Objective To evaluate the therapeutic effect of extendable intramedullary nail on children with femoral deformity due to osteogenesis imperfecta.Methods From June 2009 to June 2012,21 patients with femoral deformity due to osteogenesis imperfecta were treated with extendable intramedullary nail.There were 13 males and 8 females,aged from 9 years and 6 months to 15 years and 7 months (average,12 years and 3 months).All children had been performed osteotomy on the shaft of femur and implanted with non-extendable nail before 2-4 years (average,3 years).All children had suffered refracture and deformity,including 9 children with femoral bending deformity and 12 with refracture.The deformity angle ranged from 10°to 30°,with an average of 15°.According to revised Sillence classifications,there were 6 cases with type Ⅲ and 14 with type Ⅳ and 1 case with type Ⅴ.Twenty-one patients were operated with extendable nail for fixing fracture and correcting deformity and incisions were 2-3 cm long and located on the great trochanter and distal osteotomy point.Results All of 21 children were followed up for 6-30 months (average,18 months).The bone healing time was 7-12 weeks (average,8.5 weeks).Patients started to walk after X-ray showing bone union.Parents of 21 children were satisfied with surgical operation effect and deformity correction.The Barthel index score improved from 72.85 (range,50-90 points) preoperatively to 91.42 (range,80-100 points) postoperatively at the latest follow-up of patients.WeeFIM index score increased from preoperative average of 55.42 points (range,40-70points) to postoperative average 79.00 points (range,70-86 points).Ten of all children with stick aid preoperative could walk independently after small incision repairing,and 6 of all children in sickbed preoperative,4 of 6 children could walk independently,2 of 6 children could walk with stick aid.Conclusion Small incision repair with extended intramedullary nail operation therapy is advantaged.It gets less bloody,less damages,less pain,less healing time and walking after removing plaster.

Screening of bone-related microRNAs in serum of patients with osteogenesis imperfect / 生物工程学报

We screened differential expression bone-related microRNAs (miRNAs) in serum of patients with osteogenesis imperfect (OI). First, we selected the reference gene (s) fit for quantitative detection of serum miRNAs by using geNorm and several other programmes. Then real-time fluorescent quntitative PCR was used to detect the expression level of bone-related miRNAs gained by means of miRanda, Targetscan and Pictar softwares caculation and reading literature. Then, the results were analyzed with the matched t test. All 6 candidate reference genes had a stable expression level in serum of healthy controls and patients with different characters, and the optimal number of reference genes is 4 (miR-16, let-7a, snRNAU6, miR-92a) after Pairwise Variations analysis (V4/5 = 0.133 < 0.15). For validating the universality of expression stability, we detected the relative expression value of miR-16, let-7a, snRNAU6 and miR-92a in another 8 healthy controls and 16 patients with OI and the result revealed that the expression of 4 genes remained stable (M < 1.5). After measuring serum levels of more than 100 bone-related miRNAs in patients with real-time qPCR, 11 miRNAs showed differential expression, and bioinformatic analysis suggested these altered expressional mioRNAs had possibilities to participate in the process of OI. So the experiment indicated that there existed many differential expression bone-related miRNAs in serum of patients with OI, and these miRNAs had potentials to be promising biomarkers for serologic tests and diagnosis of OI.

Missed Monteggia fractures in children: pathological mechanism and surgical treatment / 中华骨科杂志

ObjectiveTo evaluate and compare the outcomes of missed Monteggia fractures in children treated with ulnar angulation-distraction osteotomy and plate fixation or external fixation.Methods Nineteen patients,including 11 boys and 8 girls who presented with missed Monteggia fracture,were reviewed from July 2005 to June 2011.Twelve children (Group A) were treated with ulna angulation osteotomy and plate fixation,and 7 eases(Group B) with ulna angulation-distraction osteotomy and external fixator.Thirteen patients were classified as type Bado Ⅰ,and six as type Bado Ⅲ.The age,the delay from injury to surgery,complications,elbow and forearm function,and the healing time of the osteotomy were compared.ResultsAll 19 patients were followed up.The duration of missed dislocation was from 6 to 36 months (mean,10 months).Redislocation of the radiocapitellar joint occurred after surgery in one case in group A.Forearm compartment syndrome occurred in one case after surgery in group B.All patients,except one,regained full elbow flexion in group A and B,various forearm pronation limitation were noted in all patients (mean,15°).The average healing of osteotomy of group A and B was 8 weeks(6-15 weeks) and 22 weeks (10-44 weeks).ConclusionThe ulnar angulation-distraction osteotomy could correct the ulnar deformity in children of missed Monteggia fractures,which is the key issue to be corrected.Both of the fixation strategies can obtain the same treatment results.Preoperative assessment is most important,plate internal fixation was recommended for young age and short delay cases,on the contrary,we prefer to choose external fixator.

Multi-section osteotomy and intramedullary fixation for children with osteogenesis imperfecta / 中华骨科杂志

ObjectiveTo evaluate the safety,therapeutic effect and complications of the operation of multi-section osteotomy and intramedullary fixation for children with osteogenesis impeffecta.Methods One hundred and twenty-three children with osteogenesis imperfecta,including 85 males and 39 females,were selected from August 2005 to August 2008.According to the modified Sillence classification,45 cases was in type Ⅲ,74 in type Ⅳ,and 5 in type Ⅴ.Patients' age was ranging from 2 years and 1 month to 15 years and 7 months (mean,8 years and 3 months).The location of osteotomy was established according to the pre-operative measurement of X-ray image,and all the procedures of osteotomy were completed under direct vision.Then we chose the intramedullary pin with suitable size and insert the pin into femur from greater trochanter,and tibia from pelma.After the surgery,external fixation (spica cast for the femur,long leg plaster cast for the tibia) was made for further stabilization.Plaster supporters were removed 6 weeks later and all children began to stand and walk under the protection of orthoses.In addition,all patients received the treatment of pamidronate disodium periodically.ResultsAll 123 children were followed up for an average of 38months (range,13-64 months).Parents of all children were satisfied with the result of surgical operation,and the children's self-care and motion ability improved obviously.Fourteen children were performed the second operation due to the translocation of Rush pin,and 25 children changed the internal fixation because of the shorter Rush pin 2 years postoperatively.Bone delayed union was not found in all patients.Conclusion Multi-section osteotomy and intramedullary fixation for children with osteogenesis imperfecta could correct skeletal deformity,improve motion ability and avoid second fracture efficiently.However,such complications as translocation of intramedullary pin and changing the internal fixation with the growth of child need to pay more attention.