Congenital Hip Dysplasia Research Articles

SHORTENING OSTEOTOMIES OF THE FEMUR DURING TOTAL HIP ARTHROPLASTY FOR DEVELOPMENTAL HIP DYSPLASIA

Total hip arthroplasty (THA) for congenital hip dysplasia (CDH) presents a challenge. In high-grade CDH, key surgical targets include cup placement in the anatomical position and leg length equality. Lengthening of more than 4 cm is associated with sciatic nerve injury, therefore shortening osteotomies are necessary. We present our experience of different shortening osteotomies including advantages and disadvantages of each technique.89 hips, in 61 pts (28 bilateral cases), for high CDH were performed by a single surgeon from 1997 to 2022. 67 patients were female and 22 were male. Age ranged from 38 to 68 yrs. In all patients 5–8cm of leg length discrepancy (LLD) was present, requiring shortening femoral osteotomy. 12 patients underwent sequential proximal femoral resection with trochanteric osteotomy, 46 subtrochanteric, 6 midshaft, and 25 distal femoral osteotomies with simultaneous valgus correction were performed. All acetabular prostheses were placed in the true anatomical position. We used uncemented high porosity cups. Patients were followed up for a minimum of 12 months.All osteotomies healed uneventfully except 3 non-unions of the greater trochanter in the proximal femur resection group. No femoral shaft fractures in proximally based osteotomies. No significant LLD compared to the unaffected or reconstructed side. 2 patients suffered 3 and 5 degrees malrotation of the femur in the oblique sub-trochanteric group. 3 patients suffered transient sciatic nerve palsies.Shortening femoral osteotomies in the treatment of DDH are necessary to avoid injury to the sciatic nerve. In our series, we found transverse subtrochanteric osteotomies to be the most technically efficient, versatile and predictable in their clinical outcome, due to the ability to correct rotation and preserve the metaphyseal bone integrity, allowing for better initial stem stability. Distal femoral osteotomies allowed for controllable correction of valgus knee deformity.

Incidence of risk factors in developmental dysplasia of the hip: a retrospective study on 18,954 cases.

DDH is 1 of the most important causes of childhood disability. A diagnosis of instability can be made in the neonatal period via the Ortolani and Barlow manoeuvres. However, clinical examination, although highly specific, has poor sensitivity as compared to ultrasound. There is controversy between the necessity of universal screening for dysplasia of all newborns or selective screening reserved for those with clinical signs of instability or known risk factors of DDH. To analyse the risk factors of congenital hip dysplasia in a consecutive case series of children referred for diagnosis and treatment of DDH. This was a cross-sectional study on infants consecutively examined between January 2000 and December 2019 at the Marino Ortolani Centre in Ferrara, Italy. The first 3 types on Graf's classification were considered physiological (1A, 1B, 2A+), while the last 6 pathological (2A-, 2B, 2C, 2D, 3, 4). 18,954 infants met the inclusion criteria and were therefore considered eligible for the study. Of these 18,954 infants, 56% (n = 10,629) were females and 44% (n = 8325) were males. According to Graf classification, 34.9% (n = 6621) were 1A, 52.7% (n = 9999) were 1B, 4.0% (n = 753) were 2A+, 2.5% (n = 478) were 2A-, 1.5% (n = 284) were 2B, 1% (n = 196) were 2C, 1.3% (n = 243) were 2D, 1% (n = 193) were 3 and 1.0% (n = 187) were 4. The most significant risk factor was the female gender (OR 5.36; 95% CI, 4.63-6.20) followed by a family history (OR 2.35; 95% CI, 2.08-2.65), then skeletal pathologies (OR 2.04; 95% CI, 1.21-3.42), oligohydramnios (OR 1.75; 95% CI, 1.44-2.13), and finally breech presentation (OR 1.42: 95% CI, 1.27-1.60). Based on our data, family history, musculoskeletal disease, oligohydramnios and breech presentation are the main risk factors for DDH development, as is the female sex.

Is AI 3D-printed PSI an accurate option for patients with developmental dysplasia of the hip undergoing THA?

BackgroundIn traditional surgical procedures, significant discrepancies are often observed between the pre-planned templated implant sizes and the actual sizes used, particularly in patients with congenital hip dysplasia. These discrepancies arise not only in preoperative planning but also in the precision of implant placement, especially concerning the acetabular component. Our study aims to enhance the accuracy of implant placement during Total Hip Arthroplasty (THA) by integrating AI-enhanced preoperative planning with Patient-Specific Instrumentation (PSI). We also seek to assess the accuracy and clinical outcomes of the AI-PSI (AIPSI) group in comparison to a manual control group.MethodsThis study included 60 patients diagnosed with congenital hip dysplasia, randomly assigned to either the AIPSI or manual group, with 30 patients in each. No significant demographic differences between were noted the two groups. A direct anterior surgical approach was employed. Postoperative assessments included X-rays and CT scans to measure parameters such as the acetabular cup anteversion angle, acetabular cup inclination angle, femoral stem anteversion angle, femoral offset, and leg length discrepancy. Functional scores were recorded at 3 days, 1 week, 4 weeks, and 12 weeks post-surgery. Data analysis was conducted using SPSS version 22.0, with the significance level was set at α = 0.05.Results and conclusionThe AIPSI group demonstrated greater prosthesis placement accuracy. With the aid of PSI, AI-planned THA surgery provides surgeons with enhanced precision in prosthesis positioning. This approach potentially offers greater insights and guidelines for managing more complex anatomical variations or cases.

Epidemiology and Screening of Developmental Dysplasia of the Hip in Europe: A Scoping Review

Developmental hip dysplasia or developmental dysplasia of the hip (DDH) includes a wide range of deformities of the hip, such as congenital dysplasia, subluxation, and dislocation. It is usually identified through neonatal screening during the first 6–8 weeks of life. The incidence of DDH ranges from 1–7% in neonates among some populations, but this may vary among different ethnicities and countries. A consensus about the ideal age for screening has not been reached to date. The aim of this study is to summarize the existing data regarding the incidence of congenital hip dysplasia and screening tests among European countries. The authors conducted a systematic search in PubMed/Medline and Scopus and collected original studies published in English, French or German. The incidence of DDH presents fluctuations, not only among European countries, but also within the same country. There is no unanimity regarding the screening methods of DDH; in some countries, universal ultrasound is proposed as the basic screening method for neonates for DDH; in other countries screening is performed only in high-risk cases. More robust data are needed to conclude which screening approach is associated with improved long-term outcomes.

Diagnostic Efficacy of High-frequency Ultrasound (HFU) in Early Diagnosis of Congenital Hip Dysplasia.

Hip dysplasia is one of the most prevalent disorders in children and one of the three primary congenital orthopedic deformities. Although there are numerous existing methods (e.g., CT, MRI and arthrography) for early identification of hip dysplasia, their diagnostic criteria differ widely. It is critical to establish a safe, accurate, and reliable way for early diagnosis and treatment of hip dysplasia. This study aimed to analyze the diagnostic efficacy of high-frequency ultrasound (HFU) for congenital developmental hip dysplasia and hip dislocation and to provide a reference for the early diagnosis of congenital hip dysplasia in the future. A total of 104 infants and children suspected of having congenital hip dislocation or developmental hip dysplasia admitted to our hospital from April 2019 to August 2022 were enrolled as study subjects. All the infants and children were subjected to HFU and X-ray examination in our hospital. The diagnostic efficacy of HFU for congenital hip dysplasia was observed using X-ray as the gold standard. HFU confirmed 79 cases of congenital hip dysplasia, while X-ray confirmed 71 cases. The sensitivity and specificity of HFU were 77.42% and 83.33%, respectively, in the diagnosis of congenital developmental hip dysplasia, 76.47% and 96.55% in the diagnosis of congenital hip dislocation, and 77.22% and 60% in the diagnosis of congenital hip abnormality, which is very close to the gold standard. According to statistics on infants and children, the majority of patients were girls, and the left joint was more likely to be affected. HFU has excellent diagnostic efficiency for congenital developmental hip dysplasia and hip dislocation, which can be considered an early assessment method for congenital hip dysplasia in the future.

Analysis of the epidemiological profile of congenital hip deformities, 2011-2021.

This study aimed to identify the relevance of hospitalizations for congenital hip deformities in Bahia. This is a retrospective epidemiological study in public databases. Descriptors in health sciences: "congenital hip dysplasia", "congenital hip dislocation", and "congenital dislocation hip". This is qualitative-quantitative research with the analysis of secondary data and cross-sectional typologies in the databases of the Ministry of Health - Health Information (TABNET), made available by the Department of Informatics of the Unified Health System (DATASUS). Bahia was the third Brazilian state with the highest number of hospitalizations, registering 1481 cases. The municipalities in Bahia with the highest prevalence were Itanhém, Salvador, and Barreiras, with 912, 445, and 20 cases, respectively. The elevated number of congenital hip deformities reflects a public health problem, requiring investments in public policies.

THU457 Variable Presentations Of Hypophosphatasia In Two Patients In The Outpatient Setting

Abstract Disclosure: A. Elmaaz: None. S. Batool: None. P. Dandona: None. Introduction: Hypophosphatasia is a rare disorder characterized by defective mineralization of bone and teeth which is caused by an autosomal inherited mutation in the tissue nonspecific alkaline phosphatase (ALP) encoding genes. Here we present two cases of multiple dental and bony defects secondary to low ALP enzyme activity due to hypophosphatasia. Case 1: A 27-year-old female with history of mitochondrial disease, gastroparesis, malabsorption syndrome, and autonomic dysfunction was referred to Endocrinology clinic because of persistently low serum ALP levels associated with recurrent muscle, joint, and bone pain since the age of 13. She had history of multiple tooth extractions because of dental developmental abnormalities and fractures. She also reported history of fractures of three of her fingers in both hands during her childhood and teenage years. The patient was adopted and was unaware of any biological family history. Physical examination was remarkable for short-statured female, 4'8". Notably, the middle phalanges in little fingers bilaterally were shorter than the other fingers. Workup showed vitamin D level of 21 (30-80) ng/ml, despite being on 50,000 IU twice a week for 6 months with normal PTH and ionized calcium levels. The repeated serum level of ALP was 24 (31-125) U/L with bone and liver isoenzymes levels of 42% and 58 % respectively. Vitamin B6 level was 13.2 (2.1-21.7) ng/ml. Bone mineral density was unremarkable. Case 2: A 53-year-old female with history of congenital left hip dysplasia, hypertension, and dyslipidemia was seen by Endocrinology service for evaluation of decreased ALP levels. She denied any history of falls or fractures. However, she reported chronic bone pain, especially in bilateral hip joints with history of multiple surgeries in her left hip joint. She had required teeth braces and multiple dental surgeries during her childhood due to dental maldevelopment. Her height was 4'8". Laboratory workup was remarkable for low serum ALP level of 30 U/L with bone isoenzyme of 24 %. Vitamin B6 level was 206.7 (2.1-21.7) ng/ml. She had elevated serum phosphorus levels with normal calcium, PTH, and vitamin D levels. Pyridoxal-5- Phosphate level was high. Bone mineral density revealed osteopenia. Conclusion: Hypophosphatasia is a rare disease, hence it could be easily missed due to high variability in clinical presentations and severity of symptoms. Low serum levels of ALP with history of bone pain, recurrent fractures, premature loss of deciduous teeth, or loss of adult dentition should raise the suspicion of hypophosphatasia. Resistance to vitamin D supplementation is another clue to the diagnosis. A multidisciplinary approach is required for appropriate management. Presentation: Thursday, June 15, 2023

Analysis of factors associated with the influence of femoral stem anteversion after total hip arthroplasty

To explore the related factors of femoral stem anteversion (FSA) after total hip arthroplasty (THA), so as to provide reference for clinical design of FSA before operation and reduce the risk of hip dislocation after arthroplasty. Ninty-three patients (103 hips) who underwent THA between October 2021 and September 2022 and met the selection criteria were selected as the study subjects. Among them, there were 48 males and 45 females with an average age of 58.5 years (range, 25-88 years). Body mass index was 18.00-37.84 kg/m 2, with an average of 24.92 kg/m 2. There were 51 cases (57 hips) of osteonecrosis of femoral head, 35 cases (39 hips) of hip osteoarthritis, and 7 cases (7 hips) of congenital hip dysplasia. Based on CT images, the following indicators were measured: preoperative femoral neck anteversion (FNA), preoperative femoral rotation angle (FRA), preoperative acetabular anteversion (AA), and preoperative combined anteversion (CA; the sum of preoperative FNA and AA); postoperative FSA and the change in femoral anteversion angle (the difference between postoperative FSA and preoperative FNA). Based on preoperative X-ray films, the following indicators were measured: femoral cortical thickness index (CTI) and canal flare index (CFI), the proximal femoral medullary cavity was classified according to Noble classification (champagne cup type, normal type, chimney type), neck-shaft angle (NSA), and femoral offset (FO). Pearson correlation analysis, one-way ANOVA, and Point-biserial correlation analysis were used to investigate the correlation between postoperative FSA, postoperative change in femoral anteversion angle, and patient diagnosis, proximal femoral medullary cavity anatomy type, gender, age, as well as preoperative FNA, FRA, AA, CA, NSA, FO, CTI, and CFI. FSA was used as the dependent variable and the independent variables that may be related to it were included for multiple linear regression analysis. Based on CT image measurement, preoperative FNA was (15.96±10.01)°, FRA (3.36±10.87)°, AA (12.94±8.83)°, CA (28.9±12.6)°, postoperative FSA (16.18±11.01)°, and postoperative change in femoral anteversion angle was (0.22±9.98)°. Based on preoperative X-ray films measurements, the CTI was 0.586±0.081; the CFI was 4.135±1.125, with 23 hips classified as champagne cup type, 68 hips as normal type, and 12 hips as chimney type in the proximal femoral medullary cavity anatomy; NSA was (132.87±7.83)°; FO was (40.53±10.11) mm. There was no significant difference between preoperative FNA and postoperative FSA ( t=-0.227, P=0.821). Pearson correlation analysis showed that postoperative FSA was positively correlated with preoperative FNA, preoperative CA, postoperative change in femoral anteversion angle, and age ( P<0.05), while negatively correlated with preoperative FRA ( P<0.05). The postoperative change in femoral anteversion angle were positively correlated with preoperative FRA and postoperative FSA ( P<0.05), and negatively correlated with preoperative CA and FNA ( P<0.05). One-way ANOVA analysis showed that the above two indicators were not correlated with diagnosis and the proximal femoral medullary cavity anatomy type ( P>0.05). Multiple linear regression analysis showed a linear correlation between FSA and FNA, CA, age, and FRA ( F=10.998, P<0.001), and the best fit model was FSA=0.48×FNA-2.551. The factors related to FSA after THA include patient's age, preoperative FNA, CA, FRA and postoperative femoral anteversion, of which preoperative FNA is the most closely related. When designing a surgical plan before surgery, attention should be paid to the patient's preoperative FNA, and if necessary, CT around the hip joint should be scanned to gain a detailed understanding of the proximal femoral anatomical structure.

Clinical aspects of imaging the hip in infants, children and adolescents

When achild with ahip problem is clinically evaluated, it is usually possible to make apresumptive diagnosis which is subsequently confirmed. The most important tool for confirmation in pediatric hip disorders is radiological imaging. Vice versa changes on sonogram, native X‑ray or magnetic resonance images (MRI) can often only be interpreted when the history and current clinical findings are known. In this constellation, it is desirable that all colleagues who are confronted with achild's hip problem know the most common and important pediatric hip disorders and use the same terminology. The aim of this article is to present ashort outline of the pathogenesis and clinical aspects of congenital and neurogenic hip dysplasia, coxitis fugax, septic coxitis, Perthes' disease, infantile and adolescent femoroacetabular impingement, apophysiolyses, and slipped capital femoral epiphysis.

Hip dysplasia

Hip dysplasia is one of the most common malformations in childhood and has asignificant impact on the further life of those affected. Adistinction must be made between congenital and the much rarer acquired dysplasia. Early diagnosis and therapy are pivotal for further development of patients. The paper gives an overview of current radiological possibilities of diagnosis with focus on congenital hip dysplasia supplemented by insights into therapeutic options. Basic and review papers were analyzed. Clinical examination of the newborn has low sensitivity and specificity in the diagnosis of hip dysplasia. The introduction of Graf ultrasound screening has significantly improved the early detection of dysplastic hips. With the help of sonography, but also magnetic resonance imaging (MRI), the shape of the acetabulum and the position of the femoral head in the socket can be precisely and quickly determined, while X‑ray examinations have their place especially in the context of follow-up examinations after treatment from the age of 1year and in the diagnosis of secondary dysplasia. Therapeutic options range from spreading treatment to open reduction with fixation in the newborn as well as conversion osteotomy in older children. Early detection of hip dysplasia is critical to the course of treatment. The right choice of examination method and correct performance are essential for further treatment.

Congenital hip dysplasia in Norway

Congenital hip dysplasia in Norway

Znaczenie systematycznej rehabilitacji na przestrzeni 45 lat pacjentki z rozwojową dysplazją stawu biodrowego (studium przypadku)

Congenital hip dysplasia is a teratogenic defect and affects 2% of the population; It arises in the fetal period and can be caused by pathological factors from both the mother and the fetus. The hallmark of congenital hip dysplasia is an undeveloped, excessively shallow acetabulum that prevents stabilization of the femoral head, resulting in hip dislocation. In recent years, there has been a shift in understanding of this musculoskeletal defect, based on early clinical and ultrasound findings, to developmental hip dysplasia, which can present as hip subluxation or dislocation. This paper presents the stages of treatment of a patient with developmental hip dysplasia over a 45-year period, the course of rehabilitation, and the effects of improvement after the use of CD34+ stem cells.

Congenital hip dysplasia in Norway

Congenital hip dysplasia in Norway

Imaging measurement and analysis of related indexes of variation of femoral head rotation center

To provide guidance for hip replacement by analyzing the variation of femoral head rotation center in different hip diseases. A total of 5 459 patients were collected from March 2016 to June 2021, who took positive and proportional plain films of both hips for various reasons. The relative position between the rotation center of the femoral head and the apex of the greater trochanter was measured. The positive variation is more than 2 mm above the top of the great trochanter, and the negative variation is more than 2 mm below the top of the great trochanter. A total of 831 patients with variation of femoral head rotation center were collected and were divided into 4 groups according to different diseases, and the variation was counted respectively. There were 15 cases in the normal group involving 10 cases of positive variation and 5 cases of negative variation. There were 145 cases of avascular necrosis of femoral head involving 25 cases of positive variation and 120 cases of negative variation. There were 346 cases of congenital hip dysplasia involving 225 cases of positive variation(including 25 cases of typeⅠ, 70 cases of type Ⅱ, 115 cases of type Ⅲ and 15 cases of type Ⅳ), and 121 cases of negative variation(including 50 cases of crowe typeⅠ, 60 cases of typeⅡ, 10 cases of type Ⅲ and 1 case of type Ⅳ). There were 325 cases of hip osteoarthritis group involving 45 cases of positive variation and 280 cases of negative variation. There was significant difference in variation of femoral head rotation center among the four groups(P<0.05). There was significant difference in variation of femoral head rotation center among different types of congenital hip dysplasia(P<0.05). There were significant differences in cervical trunk angle and eccentricity among different variations of femoral head rotation center(P<0.05). The variation of femoral head rotation center is related to cervical trunk angle and eccentricity. The variation of femoral head rotation center is an important factor in hip diseases. The variation of femoral head rotation center is different in different hip diseases. Avascular necrosis of the femoral head and osteoarthritis of the hip were mostly negative variations. With the aggravation of congenital hip dysplasia, the variation of femoral head rotation center gradually changed from negative variation to positive variation.The variation of femoral head rotation center should be paid attention to in the preoperative planning of hip arthroplasty. It is of great significance to select the appropriate prosthesis and place the prosthesis accurately.

Case Report:A Novel Technique in Total Hip Replacement in Severe Adult Congenital Hip Dysplasia

Hip dysplasia is a congenital defect of the hip joint in infants with mismatch of the femoral head and the acetabulum. It can be treated in infants via conservative or surgical containment of the femoral head. In developing countries cases of hip dysplasia are often overlooked and neglected. Therefore, many cases of severe coxarthrosis with dislocations of the femoral head can be observed. The dislocation complicates the implantation of a hip prosthesis. This article shows a novel technique in total hip replacement in a case report.

A new test (Sacco Manni test 3) of congenital dysplasia of the HIP: A Cross Sectional and Analytic Study

Purpose Or Objective: Without a prompt diagnosis, congenital dysplasia of the hip in newborns can lead severe sequelae. Current screening strategies emphatize the use of ORTOLANI AND BARLOW tests, yet they exhibit low sensibility. The purpose of this study is to evaluate for a new test as a screening tool for congenital dysplasia of the hip. Methods: to evaluate the new test, a cross sectional and analytic study was performed with a non-probabilistic sampling method. Patients with either a positive ORTOLANI AND BARLOW TESTS were evaluated with the new test (Sacco Manni test 3) and hip ultrasounds. Controls were infants With negative ORTOLANI AND BARLOW and SACCOMANNI TESTs and also had an ultrasound performed. Results: CONGENITAL dysplasia of the hip was confirmed in 83 to 130 cases (64%), and 2 of 130 controls (2%). The new test had a sensitivity of 76% AND A specificity of 94% as compared to the ORTOLANI AND BARLOW TESTS (sensitivity 31 to 32 %, specificity 93 to 100% (p inferior to 0,05). Conclusion: this new test could serve as another clinical tool for the initial screening of congenital dysplasia of the hip in in fans or newborns. Its promising results against traditional screening procedures might potentially impact diagnosis and prognosis for patients with congenital dysplasia of hip.

The effect of the design of the orthosis on the axial load transmission of two flexion abduction orthoses used in treating congenital hip dysplasia

BackgroundWith an incidence of 2–4% in all newborns, developmental dysplasia of the hip, DDH, represents the most frequent congenital disorder of the skeletal system in Germany. The therapy options are deduced with the help of a sonography. The conservative therapy approach includes the application of flexion abduction orthoses, which lead to a development of the child’s hip through abduction and flexion angle. The overall structure of the orthoses puts a strain on the axial skeleton of the children. The following work is intended to clarify what role the design of the orthoses plays in this respect. MethodsInclusion criterion for the study was fully developed newborns without an indication of skeletal malformations with Type I hip joints according to Graf verified by ultrasound. A total of 19 newborns were recruited and included in the period 3/2013–01/2015. Two types of orthoses used in treating developmental dysplasia of the hip (Tübinger splint, Otto Bock; hip flexion abduction orthosis (Superior orthosis) according to Mittelmeier-Graf, AIDAMED e.K (Kreuz et al., 2012; Mittelmeier et al., 1998; Schmitz et al., 1999), constructions differ, were used. Force was measured with the help of three force sensors, which were even able to be integrated into these without changing the design of the orthosis. In this closed system, force transmission was measured for the duration of a fixed period of two minutes. FindingsThe greatest axial force development (overall force) is in the Tübinger splint with an average force of 15.1 N (min. 0.59 N, max. 53.09 N, mean 15.1, SD 2.46). 4.09 N (min. 0.96 N, max. 20.99 N, mean 4.09, SD 0.65) resulted in the Superior orthosis. Significant correlations between body weight and resulting axial traction – on average during the entire measurement period and in movement – can be taken from the statistical analysis regarding the Tübinger splint. Such a correlation cannot be depicted for the Superior orthosis. InterpretationThe analysis of the load transmission of the examined flexion and abduction orthoses reveals differences between the models. The construct of the orthoses in itself appears to play a significant role. Long-term effects of orthosis therapy on a child’s axial skeleton have not been studied to date. Furthermore, it seems reasonable to expand the test series to orthoses, the design of which is configured in a similar matter compared to the examined aids. ConclusionThis study proves that the orthotic design has an influence on the infant’s axial load.

An infant with congenital heart defects and proteinuria: a case report

BackgroundBranchio-Oto-Renal (BOR) Syndrome is a rare autosomal disorder with a wide variety of clinical manifestations and a high degree of heterogeneity. Typical clinical manifestations of BOR syndrome include deafness, preauricular fistula, abnormal gill slits, and renal malformations. However, atypical phenotypes such as congenital hip dysplasia, congenital heart anomaly or facial nerve paresis are rare in BOR syndrome, and this might be easily misdiagnosed with other congenital disorders.Case presentationWe report a 5-month-old boy of BOR syndrome with "congenital heart defects and proteinuria" as clinical features. Initially, as this case mainly presented with symptoms of recurrent respiratory infections and was found to be with congenital heart disease and proteinuria at the local hospital, but he only was diagnosed with congenital heart disease combined with pulmonary infection and anti-infective and supportive treatment was given. Subsequently, during the physical examination at our hospital, left side preauricular pit and branchial fistulae on the right neck were found. Subsequent evaluation of auditory brainstem response and distortion product otoacoustic emission were revealed sensorineural hearing impairment. Results of renal ultrasonography showed small kidneys. Genetic analysis revealed a microdeletion at chromosome 8q13.2-q13.3 encompassing EYA1 gene, this patient was finally diagnosed with BOR syndrome. Then, this patient received transcatheter patent ductus arteriosus closure and hearing aid treatment. Proteinuria, renal function and hearing ability are monitoring by nephrologist and otologist. The patient is currently being followed up until 3 months after discharge and his condition is stable.ConclusionCareful physical examination, detailed history and the implementation of diagnostic laboratory tests can reduce the incidence of misdiagnosis. Genetic sequencing analysis of patients is a key guide to the differential diagnosis of BOR syndrome.

Congenital hip dysplasia: The importance of early screening and treatment

Congenital Hip Dysplasia (CHD) is characterized by a hip joint dislocation between the femoral head and the acetabulum, with a multifactorial etiology. This disorder can be an isolated condition or the manifestation of a syndromic condition, and it has been estimated with higher rates than registered, with a predominance in female sex and left side; risk factors are now defined. In Italy, the incidence rate is 3-4%, with significant regional differences: higher in Lombardy and lower in Sicily. Because clinical examination alone is insufficient to diagnose CHD, it is supplemented with ultrasonography and X-ray if necessary. Surveillance, static or dynamic splints, or osteotomies are the only treatment options. The goal of this study was to evaluate our experience in terms of management and conservative treatment of all newborns from January 2018 to May 2022: female sex and left hip were major involved, risk factors were not significant in our case, but results from early diagnosis and treatments, in terms of better outcome, were interesting. After a strict 6-month follow-up period, 89.13% of the patients were classified as grade Ia or Ib according to the Graf classification system. Finally, we emphasize the importance of early universal screening and subsequent diagnosis to allow for early treatment of the disorder, at an age when conservative treatments can yield good results.

Ethnic and sociodemographic correlates of developmental dysplasia of the hip in newborns from Yucatan, Mexico.

To provide an insight of the incidence of congenital developmental dysplasia of the hip in newborns from Yucatan born between 2015 and 2019 and analyze its association with maternal sociodemographic characteristics and neonatal, pregnancy and delivery related aspects. Retrospective, population-based study from Birth Registries database in Yucatan, Mexico between 2015 and 2019. Presence of hip dysplasia was described and analyzed considering three aspects (I) Maternal information (II) Pregnancy and birth (III) Neonatal examination. We obtained incidence rates from each year and the complete studied period. Association between hip dysplasia and maternal, neonatal and pregnancy/delivery variables was analyzed using logistic regression, unadjusted odds ratio and an adjusted model. Hip dysplasia occurred in 13 per 10 000 live births. Significant associations were found between hip dysplasia and maternal place of residence in a city <50 000 inhabitants, without a local clinic. Propensity to give birth to a neonate with hip dysplasia increased with maternal age and ethnicity, in female newborns and when total number of pregnancy consultations summed <5. Newborns with hip dysplasia were heavier and less susceptible to be delivered vaginally. Congenital developmental hip dysplasia was comparatively more frequent among offspring of Mayan women and suboptimal access to medical care during pregnancy. Female neonates were affected the most, those first-borns. Neonates with hip dysplasia were heavier and more susceptible to be born by cesarean section. Maternal, neonatal, and perinatal factors are associated with DDH in Yucatecan infants born during 2015-2019. Factors that describe living conditions seems to have a more important effect on the presence of this condition.