Short Bones Research Articles

Antenatal description of large 4q13.2q21.23 deletion and outcomes.

4q21 microdeletion syndrome is an emergent non-recurrent genomic disorder characterized by facial dysmorphy, progressive growth retardation, severe intellectual deficit, and absent or severely delayed speech. Deletions occur in clusters along 4q interstitial or terminal regions. 4q chromosomal aberrations are variable in type, size, and breakpoint. Genotype-phenotype correlation is a challenging task. The recurrent antenatal feature associated a posteriori with this syndrome is intrauterine growth retardation. There are very few precise antenatal descriptions of this syndrome. We report here the first antenatal history of one of the largest deletion of this region. Our case harbored a 16.9 Mb deletion encompassing 135 protein coding genes including 20 OMIM morbid genes involved in neurological and cognitive abilities. Those breakpoints overlap two clusters of described microdeletion syndromes of cytogenetic band 4q13 and 4q21. From the end of the second trimester, set of call signs associated with this syndrome can be completed by: excess of amniotic fluid, mild growth retardation, short long bones, bony anomalies of the extremities, and bulging cheeks. So, emphasis should be placed on the examination of the extremities, and the face during the routine targeted prenatal ultrasound.

Exploring the Role of Free Tissue Transfers in the Preservation of Bone Length and Knee Joint Function after Lower Limb Trauma: A Retrospective Analysis.

Lower limb trauma often results in mangled extremities, and in some cases, complete amputation may be necessary. However, limiting the extent of amputation and preserving the major knee joint are crucial to enhance mobility and overall functionality. By providing painless soft tissue coverage on the stump, early prosthesis use and the initiation of physiotherapy become more feasible. Soft tissue transfers hold the potential to benefit patients in two essential aspects: first, resolving soft tissue deficiencies without causing bone shortening, and second, preparing the stump to enhance overall functionality. A retrospective study conducted at Chang Gung Memorial Hospital (2009-2016) focused on lower limb amputation patients who underwent soft tissue transfers at different time periods compared to those without stump reconstruction. Out of the 2391 cases of lower limb injuries treated operatively, 117 amputations were performed in 110 patients (44 above the knee and 73 below the knee). Among them, 12 patients received soft tissue transfers for limb salvage and soft tissue deficiency after amputations. It was observed that patients in this group were typically younger, predominantly female, had longer hospital stays, and underwent a greater number of surgical procedures (p < 0.05). Through the use of soft tissue transfers, successfully preserved tibial bone length and functional knee joint in selected patients was achieved. This approach effectively resolved soft tissue deficiencies following lower limb amputations, optimizing physiotherapy and facilitating functional rehabilitation.

Bilateral hand dactylitis: An unusual presentation of the great imitator: Tuberculosis.

The incidence of tuberculosis in developed countries has decreased over the years due to the use of effective tuberculosis drugs and improvements in socio-economic conditions. However, with the ease of global transport and increased travel to countries with high tuberculosis prevalence, the reduction in extrapulmonary tuberculosis cases has been less significant compared with the overall decrease in tuberculosis cases. Extrapulmonary tuberculosis can manifest in a variety of ways. Tuberculous dactylitis, a rare form of tuberculous osteomyelitis, was first described by Rankin in 1886. It mainly affects the short tubular bones in the hands and feet of children and is sometimes called 'spina ventosa'. A 42-year-old male patient initially presented to an external centre reporting swelling and pain in the hand joints of one year's duration. Despite one year of treatment with leflunomide and methylprednisolone (16 mg) and a history of methotrexate use during this period, he experienced no improvement. The patient's condition worsened after the start of sulfasalazine. Dermatological examination was performed due to the presence of haemorrhagic crusted papules and plaques on the ventral surface of both hands. A wound culture was taken, but no bacterial growth was observed. One week after the initial evaluation, the patient complained of persistent foul-smelling nasal discharge, which led to an evaluation by the infectious disease department. At this time, the Quantiferon test was positive. Mycobacterial culture on Days 1 and 3 showed growth of the Mycobacterium tuberculosis complex.

P-15 A rare case of Trichorhinophalangeal Syndrome Type I

Abstract Introduction Trichorhinopharyngeal syndrome (TRPS) type 1 is a rare autosomal dominant genetic disorder due to defects of the TRPS1 gene. Clinical findings include short stature, fine hair, craniofacial and skeletal malformations, and deformities in phalangeal joints. This rare disease has a wide clinical spectrum and careful investigation on suspected cases should be made. Clinical Case A 19-year-old female patient, after application to the rheumatology clinic of our center with hand deformities, was referred to our endocrinology clinic after initial examination revealed no rheumatologic disorder; with a pre-diagnosis of a possible bone mineral disorder. She had no co-morbid disease, but her history revealed admissions to a pediatric endocrinology unit and investigations of a possible mucopolysaccharidosis, though no diagnosis had been made. There was no kinship between her parents. In her physical examination, she had fine hair, the fifth metacarpal bone of her right hand was short, she had palpable bone cysts on both of her third phalanges, and a high palatal arch. She had a short stature of 149 cm. From her history, it was learned that none of her relatives showed similar phenotypic properties. Her laboratory findings, listed in Table 1, showed no definitive defect other than a mild vitamin D deficit. The X-ray of her hands (Figure 1) showed shortening of the right fifth metacarpal bone. Her bone mineral density scan was normal. From this point, due to her clinical and radiological findings, a possible diagnosis of pseudo-pseudohypoparathyroidism was assumed, and the patient was referred to the department of genetics. The result of the genetic analysis revealed a heterozygous c.2894G&amp;gt;A (p.Arg965His) variant in the TRPS1 (NM_014112/5) gene. As a result, the patient was diagnosed with trichorhinophalangeal syndrome type 1, and was referred to the department of physical medicine and rehabilitation for physiotheraphy program for her hand deformities and possible future deformities in the skeletal system. Because the disease has an autosomal dominant inheritance, she was also informed about genetic consultancy for her possible future conception. Conclusion Trichorhinophalangeal syndrome type 1 is a rare disease and can mimic a variety of disorders including pseudo-pseudohypoparathyroidism, rheumatoid arthritis and other rheumatological diseases. Though there is no definite treatment, suspected cases should be evaluated both clinically and genetically to avoid misdiagnosis. Financial disclosures: None Funding resources: NoneFigure 1.X-ray of the patient's handsArrow shows shortening of the right fifth metacarpal bone Table 1.Laboratory findings of the patientALT: alanine aminotransferase, ALP: alkaline phosphatase, PTH: parathormone

Nomogram for fetal limb bones in Chinese ethnicity

Objective To construct fetal limb bone nomograms in the Chinese ethnic population. Methods This was a prospective cross-sectional study on singleton pregnancies between 12 and 37 weeks of gestation. Femur, tibia, fibula, humerus, ulna, radius, and foot length were measured in a standardized manner by one of the three sonographers. Each fetus’s measurements were only included once and those who developed maternal or fetal complications were excluded. Fractional polynomial regression model was used to obtain the 3rd, 10th, 50th, 90th, and 97th centiles for each of the limb measurement. Z-score for the 50th centile of each fetal limb measurement was then compared with published nomograms derived from other populations. Results Of the 843 scans performed, 775 were included in analysis after excluding conditions such as pre-eclampsia, chromosomal abnormalities, single umbilical artery and skeletal dysplasia. Comparison with other populations showed that Chinese had shorter fetal limb bone lengths than the Caucasian and Afro-Caribbean populations. Conclusion This study established nomograms for all the fetal limb bones in the Chinese ethnic population, which showed lengths comparatively shorter than Caucasian and Afro-Caribbean nomograms. This would reduce the false alarm of short fetal limb bone lengths and its consequent anxiety and intervention.

ENCURTAMENTO DE FRATURAS DE CLAVÍCULA: EXAME FÍSICO VERSUS EXAME DE IMAGEM

ABSTRACT Objective: Determine the reliability of three different methods of evaluating bone shortening in displaced midshaft clavicle fractures (DCMF). Method: A cross-sectional analytical study evaluated bone shortening by metric tape (MT), radiography (X-ray), and computed tomography (CT). Twenty-six men had been evaluated and used clavícula not broken as control. The collection of data was of the blind type for three specialists. Differences and reliability were analyzed with the Friedman and Kappa tests and validated with the T-test (CI: 95%; significance index p&lt;0.05; Software "R" version 3.2.2). Results: The MT measurements (control) showed abnormal distribution and significant statistical difference concerning the imaging tests (p=0.000008). There was a similarity between X-ray and CT and Kappa agreement of 0.65. The fractured clavicles presented similar measurements between the three methods (p=0.059), and the T-tests proved that the similarity was caused by chance or possible measurement errors. Conclusion: Measurement by metric tape showed a tendency to overestimate bone shortening. The CT showed more reliable results for the diagnosis; however, the X-ray was sufficient for decision-making by surgeons, and therefore, it is not possible to rule out the importance of this resource for DCMF. Level of Evidence IV; Case-Control Study.

Treatment and Outcomes of 4,973 Unicameral Bone Cysts: A Systematic Review and Meta-Analysis.

» Unicameral bone cysts (UBCs) can increase the risk of pathologic fractures of both long and short bones. Although multiple treatments exist, data are conflicting regarding optimal management.» We sought to analyze treatment strategies for UBCs and their rates of successful treatment.» Success rates were analyzed according to treatment modality, with emphasis on filling techniques and/or decompression associated with curettage, and injection compounds.» Curettage with bone substitute and cyst decompression was identified as a highly successful technique for UBC treatment.» Decompressing the cyst wall after injection, regardless of the specific compound used, had a greater potential to enhance healing rates.» The management decision should be individually guided within the patient's context. Level of Evidence: Level III. See Instructions for Authors for a complete description of levels of evidence.

IMP3, CDK4, MDM2 and β-catenin expression in Enchondroma and Central Chondrosarcoma: Diagnostic and prognostic utility

IntroductionThe role of IMP3, CDK4, MDM2 and β-catenin proteins in Enchondroma and Central Chondrosarcoma is not totally understood. The aim of this study is to evaluate the immunoexpression of these proteins, associating histological grade, clinical data and prognosis to these tumors. MethodsThis is a retrospective-analytical study of 32 Enchondroma and 70 Central Chondrosarcoma. ResultsIMP3, CDK4, MDM2 and β-catenin expression was observed in 22.82 %, 13.82 %, 17.17 % and in 8.8 % of cases, respectively. All Enchondromas positive for these immunomarkers were located in short tubular bones. The positivity for these antibodies is directly proportional to Chondrosarcoma's histological grade increase. No difference was found between Enchondroma and Chondrosarcoma, Grade 1 for IMP3, CDK4 and ß-catenin positivity. Significant metastasis outcome was observed for IMP3, CDK4, MDM2 and death for MDM2 expression. ConclusionIMP3, CDK4, MDM2 and β-catenin expression in Enchondromas of short bones phenotypically characterizes these tumors. Their expression has not proven to be useful either as diagnostic markers of these neoplasms or in distinguishing between Enchondroma and Chondrosarcoma, Grade 1. The significant immunoexpression of IMP3, CDK4 and MDM2 in metastatic Chondrosarcoma and the lower survival in those with positivity for MDM2 suggest a possible association of these proteins with tumor aggressiveness.

Adaptação óssea ao exercício em cavalos árabes praticantes de enduro equestre de 120-160 km - análise quantitativa e funcional

ABSTRACT Seeking the improvement of equine sports medicine, the present work aimed to determine quantitative data from different bone structures. Therefore, the objective of this work was to quantify the thickness of the cortex in a comparative way to determine the bone densitometry and also the bone density of the bone trabeculae of the spongy substance of the radius, calcaneus, and metacarpal III bones of horses practicing equestrian enduro long-distance running tests. Six thoroughbred Arabian horses and long-distance competitors (120 and 160km) were evaluated for metacarpal III, calcaneus, and accessory carpal bone. Long bones have a different micro functional structure than short bones. The sites that received and dissipated energy varied in distal, proximal epiphysis, and diaphysis according to the bone. The calcaneus and accessory carpal bone had a lower transverse thickness of the compact substance and greater density of the same, this increase was related to the improvement of local resistance. The density of the spongy substance varied with different bones. Thus, it was concluded that stress directly influenced the quantity and quality of the compact and spongy substance.

Transcutaneous Osseointegrated Prosthesis Systems (TOPS) for Rehabilitation After Lower Limb Loss: Surgical Pearls.

Transcutaneous Osseointegrated Prosthesis Systems (TOPS) for Rehabilitation After Lower Limb Loss: Surgical Pearls.

Down Syndrome: Insights and Analysis

Normally, there are 23 pairs of chromosomes found in human beings. But in some conditions, a mother has a fetus with an additional chromosome at T21(21st position) which is said to be the fetus with Trisomy-21 (Down Syndrome). There are many factors of Down Syndrome - nasal bone absence, short nasal bone, thick amniotic fluid (greater than 3 mm), fetal heart rate (FHR), Crown Lump Length, short arm, and thighs’ bones; are screened during 10-14th (First Trimester) and 15-22nd week (Second Trimester) of pregnancy. These screenings are very crucial tasks as invasive methods, hence ultrasound imaging technique comes into the picture as a non-invasive methods. With this article, we put a glance at various reasons of occurrence of Down Syndrome and comment on some analysis of societal impact of Down Syndrome. Further, we should focus on how a fetus can be diagnosed with Down Syndrome during the early age of her mother’s pregnancy using Computerized techniques such as machine learning and deep learning approaches?

Validation of an established TW3 artificial intelligence bone age assessment system: a prospective, multicenter, confirmatory study.

In 2020, our center established a Tanner-Whitehouse 3 (TW3) artificial intelligence (AI) system using a convolutional neural network (CNN), which was built upon 9059 radiographs. However, the system, upon which our study is based, lacked a gold standard for comparison and had not undergone thorough evaluation in different working environments. To further verify the applicability of the AI system in clinical bone age assessment (BAA) and to enhance the accuracy and homogeneity of BAA, a prospective multi-center validation was conducted. This study utilized 744 left-hand radiographs of patients, ranging from 1 to 20 years of age, with 378 boys and 366 girls. These radiographs were obtained from nine different children's hospitals between August and December 2020. The BAAs were performed using the TW3 AI system and were also reviewed by experienced reviewers. Bone age accuracy within 1 year, root mean square error (RMSE), and mean absolute error (MAE) were statistically calculated to evaluate the accuracy. Kappa test and Bland-Altman (B-A) plot were conducted to measure the diagnostic consistency. The system exhibited a high level of performance, producing results that closely aligned with those of the reviewers. It achieved a RMSE of 0.52 years and an accuracy of 94.55% for the radius, ulna, and short bones series. When assessing the carpal series of bones, the system achieved a RMSE of 0.85 years and an accuracy of 80.38%. Overall, the system displayed satisfactory accuracy and RMSE, particularly in patients over 7 years old. The system excelled in evaluating the carpal bone age of patients aged 1-6. Both the Kappa test and B-A plot demonstrated substantial consistency between the system and the reviewers, although the model encountered challenges in consistently distinguishing specific bones, such as the capitate. Furthermore, the system's performance proved acceptable across different genders and age groups, as well as radiography instruments. In this multi-center validation, the system showcased its potential to enhance the efficiency and consistency of healthy delivery, ultimately resulting in improved patient outcomes and reduced healthcare costs.

Radiological characteristics of skeletal growth in neonates and infants with achondroplasia.

Achondroplasia (ACH) is the most common form of skeletal dysplasia characterized by a rhizomelic short stature. Radiological skeletal findings in pediatric and adult patients with ACH include short long bones, a relatively longer fibula compared to the tibia, a narrow lumbar interpedicular distance, and a hypoplastic iliac wing. Nonetheless, the characteristics of skeletal growth during the neonatal and infantile periods have scarcely been explored. Therefore, this retrospective study aimed to analyze the radiological skeletal growth during the neonatal and infantile periods in 41 Japanese patients with genetically confirmed ACH. The length of long bones in the upper and lower limbs and the lumbar interpedicular distances at L1 and L4 were measured. These parameters showed significant positive correlations with age. The upper segment-to-lower segment ratio in the lower limbs resembled the data of healthy controls from previous reports. The L1/L4 and fibula/tibia ratios increased with age, suggesting that some representative skeletal phenotypes of ACH were less distinct during the neonatal and infantile periods. In conclusion, for the first time, this study radiologically characterized skeletal growth during the neonatal and infantile periods of patients with genetically confirmed ACH.

Intercalary Prosthetic Reconstruction with Three-Dimensional-Printed Custom-Made Porous Component for Defects of Long Bones with Short Residual Bone Segments After Tumor Resection.

Intercalary reconstruction for patients with short residual bone segments remains challenging. Three-dimensional (3D)-printed custom-made porous implants are a promising technique for short-segment fixation in these patients. This study aims to evaluate the efficiency of 3D-printed custom-made porous components (3DCPCs) for short-segment fixation, focusing on prosthesis survivorship, radiographic results, and potential complications. This retrospective study involved 39 patients who underwent intercalary prosthetic reconstruction with 3DCPCs after tumor resection of the femur, tibia, or humerus from June 2015 to October 2020. Segment bone loss involved the femur (n = 15), tibia (n = 16), and humerus (n = 8), leaving 78 residual bone segments. There were 46 short segments requiring 46 3DCPCs and 32 segments with the ability to accommodate 32 off-the-shelf standard uncemented stems for prosthesis fixation. Clinical and functional outcomes were evaluated. Prosthesis-overall survivorship and prosthesis-specific survivorship were analyzed using Kaplan-Meier survival analysis. Radiographic results and modes of failure of using this technique were also examined. The mean follow-up was 41 months. The prosthesis-overall survivorship was 87.2% and 84.6% at 2 and 5 years, respectively. The prosthesis-specific survivorship was 92.1% and 89.5% at 2 and 5 years, respectively. There was not a substantial difference in prosthesis survivorship among the femur, tibia, and humerus. The average MSTS score was 26.2, ranging from 22 to 28. The radiographic evaluation results revealed excellent or good interface (38/46) in most of the 46 porous components. A total of 38 of 46 bone segments' remolding demonstrated no change. In total, seven patients (16.3%) had complications requiring further surgery. The prosthesis survivorship of using 3DCPCs for short-segment fixation is similar or better compared to other studies involving intercalary prosthetic reconstruction with short-segment fixation. Radiographic evaluation revealed good osteointegration and avoidance of stress shielding. Overall, intercalary prosthetic reconstruction with 3DCPC is a feasible modality for patients with short residual bone segments after tumor resection.

A rare case of chondromyxoid fibroma of distal phalanx of great toe

Chondromyxoid fibroma (CMF) is rare benign tumour of bone which are due to incomplete cartilage differentiation and first described by Jaffe and Lichtensein in 1948. CMF’s constitutes for less than 1% of all bone tumors. Histopathology is diagnostic and CMF show lobulated areas of spindle shaped or stellate cells with hypocellular center of chondroid or myxoid material and periphery is hypercellular with abundant fibromyxoid tissue and few multinucleated osteoclasts like giant cell. CMFs are commonly seen in metaphysis of long bones including proximal tibia or distal femur. Short tubular bones of hand and feet are uncommon sites and toes constitutes less than 5% of the tumors. We present a case of chondromyxoid fibroma of distal phalanx of left great toe in 35 years old male patient.

Topical Application of Acerola Cherry Powder in Combination With Rosemary Extract Extends the Shelf Life of Beef Chuck Roll and Bone-In Short Rib Steaks

Improving the shelf life of steaks from beef chuck rolls and bone-in short ribs, items commonly exported, will increase the demand of beef in international markets. Our objectives were to determine the effect of topically applying combinations of acerola cherry powder and rosemary extract on steak color and lipid oxidation of beef chuck roll and bone-in short rib. USDA Choice beef chuck rolls (Institutional Meat Purchase Specifications [IMPS] 116A; N=9) andbone-in short ribs (IMPS 123A; N=18) were aged (0°C) 28 d and cut into 1.0 cm-thick steaks. Steak treatments included the following: untreated control (C) or topically sprayed (2 mL) with an acerola cherry powder solution (0.05% A), rosemary extract solution (0.10% R), or mixture of acerola cherry powder and rosemary extract (M1=0.05% A+0.1% R; M2=0.1% A+0.1% R; M3=0.05% A+0.2% R; M4=0.1% A+0.2% R). On day 0 of retail display, oxygen consumption, metmyoglobin-reducing activity, and lipid oxidation were measured. Lipid oxidation was evaluated again following 4 d of retail display. Chuck roll steak color was scored twice daily, whereas short rib lean and bone marrow color were scored once daily throughout 4 d of retail display. Treating chuck roll steaks with M2, M3, and M4 decreased lipid oxidation compared to C and A (P=0.004). In short rib steaks, lipid oxidation remained constant from day 0 to 4 treated with M4 but increased for all other treatments (P&amp;lt;0.001). Chuck roll steaks treated with A, M2, and M3 were redder than C steaks (P=0.001). On days 0 and 4, untreated bone marrow was less red than all the antioxidant treated bone marrow (P=0.011). Antioxidant treatment did not improve subjective lean color for the chuck roll (P=0.324) or bone-in short rib (P=0.081). Topical application of M4 (0.1% acerola cherry powder and 0.2% rosemary extract) reduced lipid oxidation in both chuck roll and bone-in short rib steaks. Additionally, antioxidants alone or in combination with one another improve objective redness scores by up to 2 points; however, the subjective color panel did not observe lean color improvement.

The first record of the genus Prosantorhinus (Perissodactyla: Rhinocerotidae) of East Asia

Abstract Prosantorhinus is a genus of small extinct teleoceratine rhinoceroses with shortened limb bones, widely distributed in Europe. However, the Asian evolution of the teleoceratine Prosantorhinus has remained unclear because of a scarcity of fossil records of the genus. Here, we report the first record of Prosantorhinus in East Asia from the Middle Miocene of Tongxin, Ningxia. The new specimen is characterized by a concave dorsal skull profile and elevated nasals; short and stout nasal bones with drooping margins on both sides; the thickened, enlarged, and roughened nasal extremity supporting a small horn; the semi-molarized upper premolars with a lingual bridge between the protocone and hypocone; the metaloph constriction present on P2–4; the protocone equal to the hypocone on P2; the crista present on P3; and the cement on the cheek teeth developed. With all the morphological evidence considered, we establish a new species, Prosantorhinus yei sp. nov.. A phylogenetic analysis based on 282 morphological characters scored for 36 taxa reveals that Prosantorhinus yei sp. nov. is a relatively derived taxon in the genus. We hypothesize that Prosantorhinus yei sp. nov. lived in relatively moist environments.

Forefoot reconstruction in brachymetatarsia

Background. Brachymetatarsia is a rare disease characterized by abnormal shortening of one or more metatarsal bones. The clinical picture is most often dominated by complaints of aesthetic dissatisfaction, as well as pain in the forefoot caused by mechanical dysfunction. A radical way to solve the problem is surgical treatment. The aim. To demonstrate a rare clinical observation of a patient with bilateral brachymetatarsia of both feet. Materials and methods. The article presents a case of stepwise treatment of a patient with bilateral brachymetatarsia with shortening of the III and IV metatarsal bones in combination with hallux valgus. Results and discussion. According to the protocol, the patient underwent stepwise reconstruction of the forefoot of both feet with intervention on all five metatarsal bones. After all the rehabilitation measures, there was a complete restoration of all functions of both lower limbs after the surgery, and the patient was satisfied with the aesthetic result of the surgical treatment. Conclusions. The obtained result of treatment of a patient with bilateral brachymetatarsia allows us to conclude that the use of this group of techniques is acceptable with the obligatory preoperative calculation of the necessary shortening and lengthening of the metatarsal bones, focusing on the parameters of the metatarsal formula of the forefoot, even in combination with other deformities.

Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting

BackgroundShort-rib polydactyly syndrome (SRPS) refers to a group of lethal skeletal dysplasias that can be difficult to differentiate between subtypes or from other non-lethal skeletal dysplasias such as Ellis-van Creveld syndrome and Jeune syndrome in a prenatal setting. We report the ultrasound and genetic findings of four unrelated fetuses with skeletal dysplasias.MethodsSystemic prenatal ultrasound examination was performed in the second or third trimester. Genetic tests including GTG-banding, single nucleotide polymorphism (SNP) array and exome sequencing were performed with amniocytes or aborted fetal tissues.ResultsThe major and common ultrasound anomalies for the four unrelated fetuses included short long bones of the limbs and narrow thorax. No chromosomal abnormalities and pathogenic copy number variations were detected. Exome sequencing revealed three novel variants in the DYNC2H1 gene, namely NM_001080463.2:c.6809G > A p.(Arg2270Gln), NM_001080463.2:3133C > T p.(Gln1045Ter), and NM_001080463.2:c.337C > T p.(Arg113Trp); one novel variant in the IFT172 gene, NM_015662.3:4540-5 T > A; and one novel variant in the WDR19 gene, NM_025132.4:c.2596G > C p.(Gly866Arg). The genotypes of DYNC2H1, IFT172 and WDR19 and the phenotypes of the fetuses give hints for the diagnosis of short-rib thoracic dysplasia (SRTD) with or without polydactyly 3, 10, and 5, respectively.ConclusionOur findings expand the mutation spectrum of DYNC2H1, IFT172 and WDR19 associated with skeletal ciliopathies, and provide useful information for prenatal diagnosis and genetic counseling on rare skeletal disorders.

Tilted Implant Technique Solved Numerous Limitation of Straight Technique

Present of important anatomical structures in both upper and lower jaws make challenge during planning for implant procedures in the atrophic alveolar bone and to overcome this problem need bone augmentation which still complex and difficult procedures make it not accepted by large number of patient. In this study we spot light on the teeth implant in an area where short bone or insufficient height of alveolar ridge and inclined alveolar ridge so when we place implant should be tilted either palatelly, mesially or distally in bone around and we compare the success rate between angled placed implant and up right placed implant. 61 patients came to clinic asking for toot h or teeth implant, 300 implant fixtures were placed in both uppe r and lower arch 203 implants were straight and 97were tilted. A fter 24 months follow up in the upper and lower alveolar arche s of dental implant (97.54%) of upright implant were success and (97.94%) of tilted implant were success. Results indicate that the use of tilted implants effective and safe method over bone augmentation procedures and nerve transferring.