Femoral Shortening Research Articles

Comparison of femoral neck system to multiple cancellous screws and dynamic hip screws in the treatment of femoral neck fractures

ObjectiveTo compare the short-term outcomes of the femoral neck system (FNS) with multiple cancellous screws (MCS) and dynamic hip screws (DHS) in the treatment of femoral neck fractures. MethodsA retrospective analysis was performed on 157 patients with fresh femoral neck fractures treated with FNS (from September 2019 to October 2020), MCS, and DHS (from January 2018 to October 2020). According to internal fixation methods, all patients were divided into the FNS group (54 cases), MCS group (51 cases), and DHS group (52 cases). Demographic data were also collected, recorded, and compared, including the follow-up time, days of hospitalization, operation time, blood loss, intraoperative fluoroscopy times (IFT), weight-bearing time (WBT), length of femoral neck shortening (LFNS), Harris hip score, and complications (such as internal fixation failure, bone nonunion, and avascular necrosis of the femoral head) between the three groups. ResultsOverall, 157 patients with a mean age of 61.8 (range, 18–89) years were analyzed. In the FNS group, IFT (median 10.5) was significantly lower than that in the MCS group (median 21) and DHS group (median 20.5) (P<0.05), and WBT was significantly earlier than that of the MCS group (P<0.05). In the FNS group, the median hospitalization time, operation time, and blood loss were 2 (2, 4) days, 45 (40–59) min, and 30 (20, 50) ml, respectively. They were all significantly less than 3.5 (3, 6) days, 72 (55–88.75) min, and 50 (30, 50) ml in the DHS group, respectively (P < 0.05). There was no statistical difference in LFNS, quality of reduction, internal fixation failure rate, and Harris hip score at the latest follow-up (P>0.05). No surgical complications such as incision infection, deep infection, pulmonary embolism, or femoral head necrosis were found in any of the three groups. ConclusionFNS, MCS, and DHS are all effective for femoral neck fractures. However, a lower IFT of FNS shortens the operation time. Compared to MCS, FNS has the advantages of being a simple operation, with early WBT; compared to DHS, a minimally invasive operation is the main advantage of FNS.

Non-sliding Fixation Shows Improved Clinical Outcomes for Displaced Femoral Neck Fractures as Compared to Sliding Fixation.

ObjectiveTo compare the clinical outcomes between use of sliding fixation (three cannulated screws, TCS) and non-sliding fixation (four cannulated screws, FCS) in the treatment of femoral neck fractures.MethodsWe retrospectively analyzed 102 patients with fresh femoral neck fractures treated with TCS (60 cases) and FCS (42 cases) between January, 2018 and December, 2019. The demographic data, follow-up time, hospitalization time, operation time, blood loss, length of femoral neck shortening (LFNS), soft tissue irritation of the thigh (STIT), Harris hip score, and complications (such as internal fixation failure, non-union, and avascular necrosis of the femoral head) were also collected, recorded, and compared between the two groups.ResultsA total of 102 patients with an average age of 60.9 (range, 18–86) years were analyzed. The median follow-up time was 25 (22 to 32) months. The LFNS in the FCS group (median 1.2 mm) was significantly lower than that in the TCS group (median 2.8 mm) (P < 0.05). In the Garden classification, the number of displaced fractures in the TCS group was significantly lower than that in the FCS group (P < 0.05). The median hospitalization time, operation time, blood loss, reduction quality, internal fixation failure rate (IFFR), STIT, and Harris hip score were not statistically different between the two groups (P > 0.05). However, in the subgroup analysis of displaced fractures, the LFNS (median 1.2 mm), STIT (2/22, 13.6%), and Harris hip score (median 91.5) of the FCS group at the last follow-up were significantly better than the LFNS (median 5.7 mm), STIT (7/16, 43.8%), and Harris hip score (median 89) of the TCS group (P < 0.05). No complications such as incision infection, deep infection, pulmonary embolism, or femoral head necrosis were found in either group.ConclusionTCS and FCS are effective for treating femoral neck fractures. For non-displaced fractures, there was no significant difference in the clinical outcomes between the two groups. However, for displaced fractures, the LFNS of the FCS is significantly lower than that of the TCS, which may reduce the occurrence of STIT and improve the Harris hip score.

Cementless modular total hip arthroplasty with subtrochanteric transverse shortening osteotomy for high hip dislocations

BackgroundPerforming a total hip arthroplasty for a high hip dislocation is technically demanding and presents several challenges, with appropriate evaluation of the bone morphology of the hip and proper implant selection being critical for successful outcomes.ObjectiveThe purpose of our study was to evaluate the clinical and radiographic outcomes of cementless modular total hip arthroplasty for the treatment of high hip dislocations with sub-trochanteric transverse shortening osteotomy.MethodsSixty-eight hips with a high hip dislocation, were treated using a sub-trochanteric transverse shortening osteotomy and cementless modular total hip arthroplasty, retrospectively reviewed. Hip function was assessed using the Harris hip score, with hip abduction strength evaluated using the Trendelenburg test. Radiographic assessment included the measurement of leg length discrepancy, identification of implant loosening, localization of the hip center, and union at the osteotomy site.ResultsThe mean follow-up period was 12.9 (range 5.2–16.8) years. The mean Harris hip score improved from a pre-operative score of 48.6 ± 3.6 to 82.4 ± 4.2 (p < 0.05). The hip was within the true acetabulum in all patients, postoperatively. Osteotomy union was achieved in 67 of the 68 hips (98.5%) in a mean latency of 12.5 ± 0.6 weeks. The mean length of femoral shortening was 66.5 ± 4.5 mm, with a mean pull-down length of the proximal part of 35.5 ± 3.5 mm.ConclusionFor the treatment of high hip dislocations with satisfactory clinical outcomes, the modular stem offers an adjustable anteversion angle to restore sufficient rotational stability and the transverse osteotomy provides sufficient compression pressure across the osteotomy site to facilitate union.Trial registration It was a retrospective study and approved by Istanbul Research and Training Hospital institutional Ethics Review Board (772-05/02/2016).

Finite Element Analysis of Optimal Positioning of Femoral Osteotomy in Total Hip Arthroplasty With Subtrochanteric Shortening.

BackgroundTotal hip arthroplasty with femoral shortening is frequently recommended for patients with high hip dislocation. However, the possibility of postoperative rotational deviation of the stem presents a challenge for surgeons. We aimed to determine the optimal position for osteotomy in total hip arthroplasty under full weight-bearing and turning torque by using finite element analysis.MethodsFour models of femoral osteotomy with 30-mm transverse shortening at 30% (model 30), 40% (model 40), 50% (model 50), and 60% (model 60) from the proximal end of the full length of the Exeter stem were constructed. Using finite element analysis, the constructs were first analyzed under an axial load of 1500 N and then with an added torsional load of 10°.ResultsThe analyses under torsional loading conditions revealed that the maximum von Mises stress on the stem in each model occurred at the proximal end of the distal fragment and the distal side of the stem. The maximum stress values at the stem were 819 MPa (model 30), 825 MPa (model 40), 916 MPa (model 50), and 944 MPa (model 60). The maximum stress values at the osteotomy site of the medullary cavity side of the distal bone fragment were 761 MPa (model 30), 165 MPa (model 40), 187 MPa (model 50), and 414 MPa (model 60).ConclusionsThe osteotomy level should be around the proximal 40% of the full length of the Exeter stem, which is most suitable for rotation stability in the early postoperative period.

EP460: Diagnostic dilemma in a case of suspected fetal skeletal dysplasia

Intrauterine fetal fractures are a rare finding and can represent lethal skeletal dysplasias such as Osteogenesis Imperfecta, or other metabolic or structural abnormalities. More than 400 skeletal dysplasias have been described; some are associated with classical modes of inheritance, while others are associated with imprinting errors, mosaicism, and teratogen exposure. Accurate prenatal diagnosis is critical for appropriate patient counseling, pregnancy management and expected postnatal outcomes. Prenatal ultrasound (US) remains the standard imaging modality for identifying prenatal structural abnormalities; this, coupled with genetic testing, can aid in establishing diagnoses. Available clinical testing includes chromosome microarray, panel testing, exome, and genome sequencing (ES and GS, respectively). Despite the availability of ES and GS, the genetic or molecular mechanism may remain elusive. Here we present a case of suspected campomelic dysplasia which remains a diagnostic dilemma despite thorough genetic evaluation. A 31-year-old Gravida 2 Para 1-0-0-0 at 20 weeks gestation presented for anatomy US at our Maternal Fetal Medicine clinic. This was an IVF pregnancy. Her obstetric history is complicated by one prior emergency Cesarean delivery for a 35-week fetus with decreased fetal movement and non-reassuring fetal heart tones. The neonate passed 5 days after birth with severe encephalopathy of unknown etiology. The patient and partner are otherwise healthy and have no pertinent medical or surgical history. Family history was non-contributory. Initial anatomy US for current pregnancy revealed a singleton female fetus with severely bowed femurs bilaterally with concern for fracture on the right femur, talipes equinovarus of left foot, with all bones showing normal ossification. The fetus was growth restricted at <10th percentile with all shortened long bones. Markers of lethality of skeletal dysplasia including cardiothoracic (CT) ratio was 53% (normal <50%), and femur length (FL): abdominal circumference (AC) ratio was 0.11 (Normal >0.16). These findings prompted diagnostic genetic work up with amniocentesis sent for FISH, chromosome microarray, and a 700 gene skeletal dysplasia panel; all of which returned normal. Sonographic surveillance continued to show a constellation of findings concerning for skeletal dysplasia including bilateral proximal femoral diaphyseal bowing/fractures, left clubfoot, 11 total ribs, micrognathia, chest-to-abdominal circumference CC/AC ratio 0.87, and FL/AC ratio 0.19 (considered severe when CC/AC <0.60 or FL/AC <0.16). Fetal MRI at 32 weeks demonstrated normal fetal brain structure, short femurs, normal lung volumes, unilateral talipes and micrognathia. The patient underwent prenatal ES, which was negative for pathogenic or likely pathogenic variants associated with the prenatal phenotype. The patient underwent a repeat Cesarean Delivery at 38w2d and delivered a liveborn female neonate weighing 2670 grams with Apgar scores of 7 and 9 at 1 and 5 minutes respectively. ENT was available at bedside for possible neonatal airway compromise. On postnatal physical exam, the neonate was normocephalic with age appropriate fontanelles. There was micrognathia with intermittent airway obstruction and evidence of Pierre Robin sequence. The spine was straight without lesions, both femurs were shortened with clubbing of the left foot. All fingers and toes appeared normal. A skeletal survey revealed 12 ossified rib pairs, hip dislocation, lateral bowing/angulation of the mid femoral diaphyses, as well as club feet bilaterally. No fractures were identified. With exception of hip abduction, she had appropriate movement of her extremities. Postnatal expanded GS was pursued; results revealed no pathogenic, likely pathogenic or variants of uncertain significance. Further research -based testing was pursued through Optical Mapping; this revealed several genomic insertion, deletion, inversion, duplication, and translocation events involving multiple genes. However, after review by our Center for Individualized Medicine (CIM) Genomic Odyssey Board (GOB) team, none of the reported genomic events were felt to be a good fit with the infant’s phenotype. This case remains a diagnostic dilemma. Rapid GS and research based optical mapping failed to identify an underlying genetic etiology. This case illustrates challenges associated with prenatal diagnosis of suspected skeletal dysplasias.

Clinical significance of soft markers in second trimester ultrasonography for pregnant Korean women: a multicenter study and literature review.

ObjectiveTo evaluate the clinical significance of soft markers for aneuploidy screening in Korean women.MethodsWe retrospectively reviewed the medical records of 5,428 singleton pregnant women who underwent sonography during the second trimester at seven institutions in South Korea. We evaluated the prevalence of the following soft markers: intracardiac echogenic focus, choroid plexus cysts, pyelectasis, echogenic bowel, and mild ventriculomegaly. We developed best-fitted regression equations for the fetal femur and humerus length using our data and defined a short femur and humerus as both long bones below the fifth centile. The results of genetic testing and postnatal outcomes were investigated in patients who had been diagnosed with aforementioned soft markers.ResultsThe median maternal age of our study population was 33 years, and the median gestational age at the time of ultrasonographic examination was 21 weeks. We detected soft markers in 10.0% (n=540) of fetuses: 9.3% (n=504) were isolated cases and 0.7% (n=36) of cases had two or more markers. We identified only two aneuploides (trisomy 18, 46,XX,t[8;10][q22.1;p13]), of which one was clinically significant. We presented the neonatal outcomes of the fetuses with the respective soft markers. Preterm delivery, low birth weight, and small-for-gestational-age (SGA) were significantly more common in women with a shortened fetal femur (P<0.001, all). However, the presence of a shortened fetal humerus was not associated with those outcomes excluding SGA.ConclusionSoft markers in second-trimester ultrasonography have limited use in screening for fetal aneuploidy in Korean women. However, these markers can be used as a screening tool for adverse outcomes other than chromosomal abnormality.

Internal fixation using fully threaded cannulated compression screws for fresh femoral neck fractures in adults

ObjectivesInternal fixation with multiple cannulated compression screws is an optional treatment for femoral neck fracture. Recently, fully threaded cannulated compression screws (FTCCS) have been introduced to fix fresh femoral neck fractures (FNF). The purpose of this study was to investigate the effectiveness of FTCCS.Patients and methodsPatients with FNF fixed by multiple FTCCS from February 1st, 2014 to August 31st, 2017 were included in this study. They were followed for at least 12 months postoperatively. Nonunion, osteonecrosis of the femoral head (ONFH), fixation failure, reoperation, and femoral neck shortening (FNS) were used to evaluate the outcomes. Risk factors including age, sex, fracture side, fracture displacement, fracture stability, fixation configuration, and screw numbers were analyzed.ResultsA total of 113 patients including 67 males and 46 females with an average age of 48.4 ± 13.4 years were included. The mean duration of follow-up was 27.1 months (range: 12–51 months). The incidence of nonunion, ONFH, fixation failure, and reoperation was 15.9%, 22.1%, 8.8%, and 24.8%, respectively. The rates of nonunion and reoperation were significantly higher in displaced fractures and unstable fractures. And patients with an unstable fracture had a higher risk of internal fixation failure. The median length of FNS was 2.9 mm (interquartile range: 0.9–6.5 mm, range: 0–17.5 mm). Age was a significant risk factor for FNS.ConclusionsThe screw fixation method with FTCCS provided encouraging clinical results which may be a rational choice for the treatment of fresh FNF. Displaced fractures and unstable fractures were attributed to the higher incidence of complications.Trial registration: ChiCTR, ChiCTR1800017200. Registered 17 July 2018-Retrospectively registered, http: www.chictr.org.cn/showprojen.aspx?proj=29182.

Less malunion and shorter bone union time with titanium elastic nail treatment for isolated femoral shaft fractures in three- to six-year-old children.

Titanium elastic nail (TEN) is a good option for femoral shaft fractures in school-age children, whereas a spica cast is favored for younger patients. We aimed to compare these treatment modalities in a group of children aged three to six years. 34 patients aged 3-6years with an isolated closed femoral shaft fracture treated with TEN or one-leg spica cast immobilization were retrospectively assessed. Age, gender, weight, mechanism of injury, hospital stay time, bone union time, radiographic shortening, malunion, and complications were compared between the treatment groups. 16 (47.1%) patients who were treated with TEN (Group T) and 18 (52.9%) patients with spica casting (Group S) were included with a mean of 51 (24-94) months follow-up. The mean age was 4.98years and statistically similar between both groups (mean, 5.2 vs. 4.8years; p = 0.234). The patients in Group T were heavier (mean, 19.3 vs. 17.2kg; p < 0.001) and were more likely to have a higher-energy mechanism of injury (p = 0.006). The mean late femoral shortening of Group S patient's was 6.5 ± 3.5mm and significantly higher than Group T, which was 2.0 ± 2.9 (p = 0.050). However, effective late femoral shortening rates were not statistically different between groups (p = 0.347). Malunion was seen in six (33.3%) patients in Group S, whereas none of the patients in Group T had malunion at the last follow-up examination and were statistically different (p = 0.011). Our study identified radiographic evidence favoring TEN over spica cast immobilization in treating preschool-age children with an isolated femoral shaft fracture in terms of malunion.

A Comparative Study between Proximal Femoral Locking Plate and Multiple Cannulated Screws for Fixation of Femoral Neck Fractures in Young Adults.

Objective To compare the clinical effect of proximal femoral locking plate (PFLP) versus multiple cancellous screw (MCS) for FNF. Methods FNF patients were treated with the PFLP implant or multiple cancellous screws (MCSs). Patient has been followed up for at least 12 months after surgery nonunion, and the occurrence of complications, femoral neck shortening, fracture healing time, and Harris hip score were recorded and compared. Results 77 FNF patients were treated with the PFLP (36 patients) or MCS (41 patients). The sex, age, side of the injured limb, type of Garden fracture, time from injury to surgery, and fracture healing time of two groups patients were comparable. The operation time and intraoperative blood loss in the PFLP group were worse than those in the MCS group. Two patients with the PFLP (5%) and nine patients (21%) with the MCS experienced cut out of the lag screw or avascular necrosis of the femoral head or nonunion and received hip replacement. However, the number of fluoroscopies in the PFLP group was significantly lower than that in the MCS group. Additionally, the femoral neck shortening and Harris hip score were all strongly better in the PFLP group than in the MCS group. Conclusions Compared with the MCS, PFLP treatment for FNF in young adults can decrease the fluoroscopy times, improve hip functional recovery, and reduce the complications rate and femoral neck shortening.

Pathologic whole exome sequencing analysis in fetuses with minor sonographic abnormal findings and normal chromosomal microarray analysis: case series

Background No current data exists regarding the occurrence of pathological results when using Whole Exome Sequencing (WES) analysis in a subgroup of fetuses with minor abnormalities and normal Chromosomal Microarray Analysis (CMA) results. Objective Our study aimed to report our experience with in-utero WES abnormal results, found in fetuses with minor anomalies after a normal CMA result. Methods A retrospective study conducted in a single tertiary center, during four years, included collating data regarding fetuses with minor structural abnormalities, normal CMA results, and abnormal triple WES test results. Results Eleven fetuses were included in the study. Eight were with cardiovascular and lymphatic drainage alterations. Two fetuses developed late third-trimester macrocephaly (head circumference ≥ +2 standard deviations), and one fetus had unilateral mildly short and bowed femur bone. In seven cases (63.6%) the parents opted to terminate the pregnancy as a result of the WES analysis results. Conclusion Our case series raises the possibility that fetuses with even minor structural alterations and normal CMA results can have genetic variants revealable only by WES analysis which can provide critical information regarding pregnancy management.

Comparison between headless cannulated screws and partially threaded screws in femoral neck fracture treatment: a retrospective cohort study

The choices of the treatments for femoral neck fractures (FNF) remain controversial. The purpose of this study is to evaluate the prognoses of the variable pitch fully threaded headless cannulated screws (HCS) in the fixation of femoral neck fractures and to compare them with those of partially threaded cannulated screws (PCS). Between 1st January 2012 and 31st December 2016, there were 89 patients with the main diagnose of FNF who accepted the treatment of closed reduction cannulated screw fixation in Peking University People’s Hospital. 34 cases of PCS and 23 cases of HCS met the criterion. The characteristics, prognoses and the imaging changes of all cases were described and the differences between the two groups were compared. Statistical analyses were performed using SPSS version 23.0 (SPSS Inc., USA). Mann–Whitney U test, Analysis of Variance and Chi-square test were used. Statistical significance was defined as P value (two sided) less than 0.05. There was no significant difference in the general characteristics, fracture classifications and reduction quality between the two groups. HCS group had a significant lower angle decrease rate (30.4% vs. 58.8%, P = 0.035), femoral neck shortening rate (26.1% vs. 52.9%, P = 0.044) and screw back-sliding rate (21.7% vs. 50.0%, P = 0.032), but a higher screw cut-out rate (21.7% vs. 0.0%, P = 0.008). In non-displacement fracture subgroup, HCS had significant higher Harris Score (92 vs. 90, P = 0.048). Compared with PCS, HCS had a lower screw back-sliding rate, femoral shortening rate, angle decrease rate and similar function score, but would result in more screw cut-outs in displaced FNF. As a conclusion, HCS should not be used in displaced FNF due to its higher screw cut-out rate, and its potential advantage in non-displaced FNF needs to be further proved. Further qualified investigations with a larger scale of patients and longer follow-up are needed in the future.

The role of the medial buttress plate in the treatment of Pauwels type II and III femoral neck fracture in nonelderly patients: a retrospective study and preliminary results

BackgroundThe purpose of this study was to compare the effectiveness of multiple cannulated screws combined with medial buttress plate or not for the treatment of unstable femoral neck fracture in nonelderly patients.MethodsSixty-nine nonelderly patients with Garden type III-IV femoral neck fracture were retrospectively analyzed. The patients were divided into MCS (multiple cannulated screws) group and CMBP (combined with medial buttress plate) group according to the surgical method. Patient’s demographic data, Harris Hip Score, EQ-5D index and complications at a minimum of 2 years follow-up were analyzed.ResultsThere were 47 patients in the MCS group (35 male and 12 females) with a mean age of 40.28 ± 12.64 years, whereas 22 patients in the CMBP group (17 male and 5 females) with a mean age of 43.86 ± 12.55 years. In the MCS group, there were 1 (2.1%) avascular necrosis, 5 (10.6%) postoperative nonunion, 5 (10.6%) implant failure, and 2 (4.3%) femoral neck shortening. While 1 (4.5%) implant failure, 2 (9.1%) postoperative nonunion and 2 (9.1%) impingement in the CMBP group. For patients with Pauwels type II and III femoral neck fracture, the CMBP group had higher HHS scores at 3 months after surgery than the MCS group (P < 0.05), whereas there was no statistical significance at 6 months, 1 year, and 2 years (P > 0.05). The same results were found in the EQ-5D index.ConclusionsIn our cohort, we observed better outcomes in the CMBP group at 3 and 6 months, with later results similar between groups. However, there were fewer complications in the CMBP group, without obviously blood-supply disruption, especially in Pauwels type II and III. Further, anatomic reduction and stable fixation may contribute to satisfactory outcomes in the treatment of nonelderly displaced femoral neck fractures.

Long-Term Evolution of the Hip and Proximal Femur after Hip Reconstruction in Non-Ambulatory Children with Cerebral Palsy: A Retrospective Radiographic Review.

Background: Hip displacement in children with cerebral palsy (CP) has a higher prevalence in non-ambulatory children. Progression can lead to pain, pelvic obliquity and difficulty with sitting. This can be addressed with hip reconstruction. Our study aims to report the long-term radiological outcomes after hip reconstruction, in particular the evolution of femoral head deformity. Methods: A total of 58 hips of non-ambulatory children with CP were evaluated retrospectively using pre-operative, early (median 120 days) and late post-operative (median 8.6 years) anteroposterior standardised radiographs. All the hips were treated with femoral shortening varus derotation osteotomy (VDRO), pelvic osteotomy and an open reduction, if indicated. The radiographical indices measured included the migration percentage (MP), sharp angle, acetabular index, centre-edge angle, neck shaft angle, head shaft angle, pelvic obliquity, femoral head sphericity, femoral head deformity (FHD) and growth plate orientation. Results: Improvements in hip congruency and morphology were evident after reconstructive hip surgery. These were maintained at the late post-operative time point. Median MP improved from 56% (IQR 46–85%) to 0% (IQR 0–15%) at early follow-up. This increased to 12% (IQR 0–20%) at late follow-up. Pre-operatively, FHDs of 14 hips (24%) were classified as grade A (spherical femoral head). This increased to 22 hips (38%) at early follow-up and increased further to 44 hips (76%) at late follow-up. Conclusions: Our study shows that hip reconstruction reduces hip displacement in the long term, indicated by decreased post-operative MP maintained at long-term follow-up. Although non-ambulatory children lack weight-bearing forces promoting bone remodelling, improved femoral head morphology after surgery alters the forces between the acetabulum and the femoral head. Mild femoral head deformity (grades A and B) remained stable and even improved after surgery, postulated to be due to severe osteoporosis allowing remodelling.

The femur too short? 1373 fetuses with short femur during second-trimester screening

PurposeA short fetal femur in prenatal diagnosis might be an indicator for intrauterine growth retardation (IUGR), a genetically determined small child (SGA) with or without associated fetal malformations and/or an adverse fetal outcome.Methods1373 singleton pregnancies with a femoral length < 5th percentile detected between 1999 and 2015 during second-trimester screening in a tertiary prenatal diagnostic center were subjected to a descriptive retrospective analysis with regard to fetal characteristics as well as pregnancy outcome.Results685 (49.9%) fetuses presented an isolated short femur, while 688 (50.1%) showed additional abnormalities. 293 (42.6%) of those were SGA babies without any malformation, while 395 (57.4%) had one or more severe anomaly of the following organ systems: 157 (11.5%) cardiovascular, 101 (7.4%) musculoskeletal, 82 (6.0%) urogenital, 72 (5.2%) cerebrocephalic, 50 (3.6%) gastrointestinal, and 5 (0.4%) thoracic. 75 (5.5%) of the fetuses showed chromosomal aberrations of which Trisomy 13, 18 and 21 were found in 2, 13 and 27 of the cases, respectively. Fetuses with associated malformations had a significantly lower live birth rate than those without (64.2% vs. 98.1%, p < 0.001); in addition, a higher rate of preterm births 36.6% vs. 11.3%, p < 0.001) and SGA babies (51.4% vs. 30.4%, p < 0.001) were observed in the first collective.ConclusionDiagnosis of a short fetal femur should lead to an extended organ screening; in the case of associated abnormalities, additional genetic testing has to be offered, as well as intensified pregnancy monitoring in pregnancies at risk for IUGR and/or preterm birth.

Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.

Mutations in the PORCN gene cause an X-linked dominant condition; focal dermal hypoplasia (FDH), characterized by atrophic skin, pigmented skin lesions in addition to several ocular and skeletal malformations. FDH is rare with around 275 cases reported so far from diverse ethnic groups. Herein, we provide a report of two new patients with FDH from Egypt. In addition to the typical clinical manifestations of the disease, infrequently reported clinical findings in the form of broad metaphysis, bilateral short broad femurs, and dermal sinus over the sacrum were seen in Patient 1 and partial fusion of labia majora, ventral hernia, and bladder extrophy were present in Patient 2. Two heterozygous protein-truncating PORCN mutations were identified in our patients, a known nonsense c.370C>T p.(Arg124Ter) and a novel frameshift c.375delG p.(Ala126HisfsTer3). Segregation analyses confirmed that the two mutations were "de novo" and not inherited from any of the parents. Our study expands the clinical and mutational spectrum of focal dermal hypoplasia and emphasizes the importance of investigating the different body systems and organs for the early management of patients.

Open Reduction with Femoral Shortening, Derotation Osteotomy, and Acetabuloplasty in a Walking Age Developmental Dysplasia of Hip - A Surgical Video Technique.

It is very common for pediatric orthopedic surgeon to encounter developmental dysplasia of hip (DDH) in walking age, especially in developing countries. The conservative options of management are almost over by this age and most require open reduction (OR) with various adjunct procedures. The most preferred approach for OR in this age group is anterior Smith-Peterson approach to hip joint. These neglected cases also require femoral shortening ± derotation osteotomy and acetabuloplasty. In this surgical video technique, we demonstrate OR + femoral shortening and derotation osteotomy and acetabuloplasty, step by step, in a neglected, walking age DDH in a 3-year-old child. We hope that the detailed demonstration and tricks at various surgical steps will benefit our readers and viewers. Step-wise surgical execution as per demonstrated technique makes the procedure easily reproducible with fairly good outcomes. In this case example, with demonstrated surgical technique, we were able to achieve a good outcome at short-term follow-up.

Ultrasound markers of chromosome aberrations on routine second trimester screening

Second trimester ultrasound examination for risk assessment of chromosomal abnormalities remains an important component of prenatal evaluation. We have conducted a retrospective study to evaluate the efficiency of ultrasonographic screening for the markers of chromosomal aberrations and to classify ultrasonographic markers according to the aberration they were found with. Over a 10 year period we performed 620 karyotype analyses of fetal blood taken by cordocentesis after detection of fetal anomalies in a second trimester scan in unselected population and 216 samples of peripheral blood of neonates having phenotypic features suspected for chromosomopathies. Ultrasound examination and cytogenetic data were obtained from the laboratory database. Chromosomal abnormalities were found in 36 (5,8%) fetuses with anomalies. Most frequently chromosomal aberrations were detected in fetuses with multiple anomalies (13,3%), heart anomalies (11,5%), short femurs (12,5%) and polyhydramnios (7,7%). The success rate of sonographic examination in detection of Down syndrome was 85%, and in detection of sex chromosome trisomies 80%. Trisomy 18, trisomy 13 and polyploidy were found prenatally in 100% each. Nearly 42% of trisomy 21 fetuses had heart anomaly, 35,3% polyhydramnios and 17,7% short femurs. Trisomy 18 fetuses had polyhydramnios in 87,5%, CNS anomalies in 62,5% and symmetrical IUGR in 50% of cases. All of the fetuses with monosomy X had short femurs. Ultrasonographic evaluation is the most sensitive screening method for the identification of fetuses having a high risk rate for chromosomal abnormalities in a low risk population.

Mismatch of short straight proximal femur nails with anterior bow of femur in Indian population- A radiological and functional analysis

IntroductionIntra-medullary devices are the most common mode of fixation of inter-trochanteric fractures. Short proximal femur nails (PFN) used for fixing these fractures, unlike the long nails, are non-anatomic and are usually straight with no curvature in antero-posterior plane. As a result, there is always a chance of the nail tip impinging against the anterior cortex of femur. Materials and methodsA total of 80 patients with trochanteric fractures (AO 31A2 and 31A3), operated with short PFN, were followed up retrospectively and prospectively from 2019 to 2021, for a period of 6 months. All fractures were fixed with PFNs, with nails ranging from 170 to 250 mm. Radiological analysis was done on hip lateral X-rays (taken at 6 months) using Angle at Distant Axis (ADA) and Nail Tip Position (NTP). Functional outcome analysis was done using Harris Hip Score. Patients were graded into 2 groups according to ADA (ADA>4° and ADA<4°). Incidence of anterior thigh pain was noted in patients on follow up and was statistically evaluated with nail size, nail diameter, ADA and NTP. ResultsMean ADA was 4.19° ± 1.45; mean NTP grade was 1.98 ± 1.11. Mean nail size was 201.87 mm with a mean nail diameter of 9.76 mm. Twenty patients complained of anterior thigh pain on follow-up. Twenty-five patients had NTP grade 3 or above of which 16 complained of anterior thigh pain (p < 0.001). Fifty-five patients had nail diameter of 10 mm or above of which 14 had anterior thigh pain (p < 0.01). Fifty-three patients had a nail length of 200 mm or above of which 16 patients complained of thigh pain on follow up (p < 0.01). ConclusionThere is a mismatch of short PFNs with anterior bow of femur. Use of shorter nails with narrow diameters will avoid this mismatch to an extent.

Motorized intramedullary lengthening followed by osseointegration for amputees with short residual femurs: An observational cohort study

Context: Some patients seeking transcutaneous osseointegration for amputees (TOFA) have residual bones so short there is concern whether they provide sufficient surface to support full weight. Our strategy was to lengthen these patients' femurs with a motorized intramedullary lengthening nail (MILN) before TOFA. Aims: The aim of this study is to describe 10 transfemoral amputees' experience with MILN before TOFA, focusing on the complications of MILN and TOFA, and also the patients' preoperative and postoperative quality of life (QOL). Settings and Design: A retrospective registry review of all MILN before TOFA surgeries was performed. Subjects and Methods: The patients' operative complications during/following MILN and TOFA were investigated. Furthermore, the patients' mobility (daily prosthesis wear hours, K-level, Timed Up and Go (TUG), and 6 min Walk Test [6MWT]) and QOL survey data (Questionnaire for Persons with a Transfemoral Amputation [QTFA]) were compared at the initial consultation and at the latest follow-up using Fisher's exact test for frequencies, and Student's t-test for means (significance, P < 0.05). Statistical Analysis Used: Fisher's exact test for frequencies, and Student's t-test for means (significance, P < 0.05). Results: Seven patients had one operative complication each: Three regenerate (autograft and plating), two nail malfunctions (nail replacement), one broken linkage cable (acute length correction with autografting and fixation), and one early consolidation (re-osteotomy). All ten patients had TOFA, an average of 12.0 ± 3.9 months after MILN surgery. One patient had debridement for infection (implant retained) and one patient had the implant removed due to infection. Significant mobility improvements were K-level >2 (2/9 = 22% vs. 9/10 = 90%, P =0.006) and TUG <15 s (1/8 = 13% vs. 6/8 = 75% P = 0.041). Wear hours and 6MWT improved but not significantly. All three aspects of QTFA significantly improved: Global (44.8 ± 29.9 vs. 75.9 ± 26.8, P =0.050), mobility (50.3 ± 30.8 vs. 74.8 ± 18.2, P =.033), and problem (38.8 ± 18.6 vs. 15.6 ± 18.3, P = 0.017). Conclusions: MILN before TOFA reliably achieves stable osseointegration for amputees with short residual femurs. Amputee lengthening remains demanding, but patients report significantly improved QOL and demonstrate improved mobility following TOFA. The minimum length of bone necessary to support a full weight-bearing osseointegrated prosthesis remains unknown.

An investigation of the effects of total hip arthroplasty with femoral shortening in unilateral Crowe type-IV dysplastic hips on sagittal spinopelvic parameters

An investigation of the effects of total hip arthroplasty with femoral shortening in unilateral Crowe type-IV dysplastic hips on sagittal spinopelvic parameters