Congenital dislocation of the knee in combination with Meyer-Gorlin syndrome: A case report

BACKGROUND: Meyer-Gorlin syndrome is a rare genetic and autosomal recessive disease that is characterized by the classical triad, including, microtia, very small size or complete patellar absence, and nanism. CLINICAL CASE: Herein, presented the first clinical case description of a Russian patient with Meyer-Gorlin syndrome in combination with congenital anterior shin dislocation. The main clinical disease manifestations are characterized by a combination of microtia, patellar pathology, and dwarfism. DISCUSSION: In the practice of pediatric orthopedic surgeons, cases of congenital knee dislocations are extremely rare, especially as part of any syndromes, which cause interest in the presented clinical case publication. Our patient analysis, as well as the patients described in the literature, showed the presence of typical clinical manifestations, which allowed us to suspect the presence of Meyer-Gorlin syndrome during a clinical examination. CONCLUSIONS: This report is the first case of combined congenital knee dislocation and Meyer-Gorlin syndrome with a diagnostic triad (short stature, microtia, and patellar aplasia) in the Russian Federation. Conservative treatment with constant traction and flexion must be carefully performed to avoid complications. Without the effect of conservative therapy, surgical treatment is indicated.

Corrective Intertrochanteric Osteotomy of the Femur for Aseptic Necrosis of the Femoral Head after Bloodless Reduction of Congenital Dislocation in School-Age Children

The immediate results of treatment of 72 children aged 7 to 12 years with aseptic necrosis of the femoral head after bloodless reduction of congenital hip dislocation were analyzed. When treating patients, the following types of surgical treatment were used:extra-articular or open centering of the femoral head with intertrochanteric-torsion-varizing or devarizing and rotational osteotomy of the femur with bringing down the greater trochanter in the caudal direction. In all patients, pain and lameness disappeared, internal rotation of the lower extremities when walking, and the range of motion in the hip joint improved. Improved radiometric parameters characterizing the ratio of the acetabulum and the head of the femur and the angular values of the hip joint and proximal femur.

Perception and Awareness about Developmental Dysplasia of the Hip in Children among Pregnant Ladies in the Aseer Region, Southwestern Saudi Arabia

Background: Developmental dysplasia of the hip (DDH) is classified as a group of malformations, varying from abnormal acetabulum (dysplasia) and mild subluxation of the femoral head to fixed displacement (congenital dislocation). This study aimed to assess the knowledge level and its determinants regarding DDH in children among pregnant females in the Aseer region of southwestern Saudi Arabia. Methods: A descriptive cross-sectional study was conducted targeting all pregnant females in the Aseer region between 1 February 2021 and 1 May 2021. A pre-structured online questionnaire was constructed by the researchers to obtain the participating females’ bio-demographic data (including age, education status, and obstetric history) and awareness regarding DDH. The last section asked for their source of information regarding DDH. Results: A total of 253 pregnant females (aged between 18 and 45 years; mean age = 30.5 ± 10.2 years) fulfilling the inclusion criteria completed the study questionnaire. About 5% of the females reported having a child with DDH, and 166 (65.6%) pregnant females knew about DDH. Additionally, 110 (43.5%) females reported that they know about how DDH is treated, and 99 (39.1%) knew about DDH complications. The most commonly reported source of information was relatives and friends (44.3%), followed by social media (11.9%) and study and work (7.1%). Conclusions: Pregnant females in the Aseer region have poor knowledge and awareness about DDH and its causes, treatment modalities, and complications. Higher knowledge was associated with either high parity or having a child with DDH.

Treatment of congenital dislocation of the hip in young children Jaeger (Surg. Gyn. A. Obst. V. 50, No. 4)

Jaeger (Surg. Gyn. A. Obst. V. 50, No. 4) gives 2 cases of successful treatment of congenital hip dislocation in young children. In contrast to the generally accepted late reduction, when the deformation of the glenoid cavity has already gone far, the author proposes to set it early.

Total Knee Arthroplasty in Patients With Prior Ipsilateral Hip Fusion: A Surgical Technique

Background: In patients with severe osteoarthritis of the knee with prior ipsilateral hip fusion who require total knee arthroplasty (TKA), a controversial issue is whether to first convert the hip fusion to a total hip arthroplasty (THA) or to perform TKA without reconstruction of the hip. Also, immobility of the ipsilateral, fused hip adds significant technical challenge because the usual positioning of the leg requires modification in order to gain access needed for the TKA. Technique: In such cases, we position the patient with the knee suspended, similar to how we perform knee arthroscopy. In our experience, the ipsilateral knee has significant deformity and is best addressed with a constrained, hinged TKA. Results: In 3 patients with severe knee osteoarthritis with prior ipsilateral hip fusion—a 72-year-old man and a 79-year-old woman with hip arthrodesis due to posttraumatic arthritis and an 81-year-old woman with hip arthrodesis due to congenital dislocation of the hip—rotating-hinge knee prostheses were implanted due to severe knee instability. All 3 patients had satisfactory results, without complications, after follow-up of 1 to 5 years. Conclusions: We obtained satisfactory results in the short and medium term without previously converting the hip arthrodesis to THA by positioning patients with the knee suspended, in a way similar to when knee arthroscopy is performed, and implanting rotating hinge TKAs due to severe preoperative knee instability.

Diaphyseal and Metaphyseal Modeling Defects—Clinical Findings and Identification of WRAP53 Deficiency in Craniometadiaphyseal Dysplasia

Background: Diaphyseal and metaphyseal modeling defects lead to severe changes in bone mass and shape, which are common features in osteoporosis that linked to non-vertebral fractures. Original mechanism of diaphyseal and metaphyseal modeling defects has proved elusive. Studying rare syndromes can elucidate mechanisms of common disorders and identify potential therapeutic targets.Methods: We evaluated a family pedigree with craniometadiaphyseal dysplasia (CRMDD, OMIM 269300), a genetic disorder that is characterized by cortical-bone thinning, limb deformity, and absent of normal metaphyseal flaring and diaphyseal constriction. Systemic radiographic examination and serum hormone test were made for this rare disease. One patient and her two normal parents were examined by means of whole-exome sequencing (WES) to identify the candidate pathogenic gene and rule out mucopolysaccharidosis and Prader–Willi Syndrome by means of Sanger sequencing.Results: There are several conspicuous radiographic characteristics: (1) bullet-shaped phalanges, (2) long and narrow pelvic inlet, absent of supra-acetabular constriction, (3) round rod-shaped long tubular bones, (4) prominent aiploic mastoid, (5) bending-shaped limb, genua varus and genu varum, and (6) congenital dislocation of elbow. Here, we did not find any wormian bones, and there are several typical clinical characteristics: (1) macrocephaly and wide jaw, (2) Avatar elf-shaped ears, pointed and protruding ears, (3) hypertrophy of limbs, (4) flat feet and giant hand phenomenon, (5) nail dystrophy, (6) limb deformity, (7) high-arched palate, (8) superficial hemangiomas, (9) tall stature, and intellectual disability. In this patient, we found biallelic frameshift deletion mutations in WRAP53, and those two mutations were transmitted from her parents respectively.Conclusions: We describe her clinical and radiological findings and presented a new subtype without wormian bones and with a tall stature. Our study showed that craniometadiaphyseal dysplasia was caused by a deficiency of WRAP53 with autosomal recessive inheritance.

Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome

Background Wiedemann-Rautenstrauch syndrome (WRS) is a rare autosomal recessive neonatal progeroid disorder characterized by prenatal and postnatal growth retardation, short stature, a progeroid appearance, hypotonia, and mental impairment. Case presentation A 6-year-old patient, who initially presented with multiple postnatal abnormalities, facial dysplasia, micrognathia, skull appearance, hallux valgus, and congenital dislocation of the hip, was recruited in this study. The patient was initially diagnosed with progeria. The mother of the patient had abnormal fetal development during her second pregnancy check-up, and the clinical phenotype of the fetus was similar to that of the patient. Whole-exome sequencing (WES) of the patient was performed, and POLR3B compound heterozygous variants—c.2191G > C:p.E731Q and c.3046G > A:p.V1016M—were identified in the patient. Using Sanger sequencing, we found that the phenotypes and genotypes were segregated within the pedigree. These two variants are novel and not found in the gnomAD and 1000 Genomes databases. The two mutation sites are highly conserved between humans and zebrafish. Conclusions Our study not only identified a novel WRS-associated gene, POLR3B, but also broadened the mutational and phenotypic spectra of POLR3B. Furthermore, WES may be useful for identifying rare disease-related genetic variants.

The effectiveness of preliminary traction in the treatment of congenital dislocation of the hip

Background Historical papers on the treatment of congenital dislocation of the hip suggest the use of preliminary traction to facilitate closed reduction or to decrease the risk of avascular necrosis (AVN) of the femoral head. In the 1980s, some authors questioned the role of preliminary traction and suspended its use, yielding satisfactory results. Since then, several studies called into question this method, and some authors have continued to recommend preliminary traction while other authors have discouraged its use. Materials and methods We reanalysed the full set of radiographs of 71 hips (52 patients) surgically treated by a medial approach after 4 weeks of preoperative longitudinal traction. The mean age at operation was 16 months. Before and after traction, the height of the dislocation was graded according to the Gage and Winter method. The hips were divided into two groups: group 1, in which the traction was effective, and group 2, in which the traction was not effective. These two groups were statistically analysed regarding the severity of the dislocation, the age of the patient at surgery and the incidence of AVN. Results Preliminary traction was effective in 48 hips (68%, group 1), while it was not effective in the remaining 23 (32%, group 2). The effectiveness of preliminary traction was statistically related to the height of the dislocation and to the age of the patient at surgery, with traction being less effective in more severe dislocations and in older children. The incidence of AVN was statistically lower in group 1 than in group 2. Conclusions In our study population, despite not having a control group, preliminary traction—when effective—seemed to reduce the incidence of AVN in patients surgically treated for congenital dislocation of the hip. The effectiveness of the traction was influenced by the severity of the dislocation and the age of the patient; it worked better for less severe dislocations and in younger children. To reduce hospital costs, traction should be applied at home. Level of evidence 3.

Congenital Dislocation of the Patella – Surgical Treatment Rationale and Literature Review

Introduction: Congenital dislocation of the patella (CDP) is a rare condition and its treatment is not well defined. In CDP, patella is dislocated on the lateral aspect of the distal femur, laterally from the trochlear groove, it cannot be reduced manually and it is almost always associated with genu valgum, lateral torsion of the proximal tibia, and flexion contracture of the knee. This condition is present at birth, but the clinical findings can be subtle at birth due to the size and character of the structures being examined; early diagnosis is essential, but it may be delayed to late childhood or adulthood. If CDP is not promptly treated, the disability increases during growth, so surgical correction should be planned as soon as the diagnosis is confirmed. Case Report: We report a case of bilateral CDP associated with bilateral proximal radioulnar joint stiffness; the patient at the age of diagnosis was 11 years old and underwent a bilateral delayed surgical procedure; the 4-year follow-up results are satisfactory. Surgical treatment rationale and literature are reviewed. Conclusion: Surgical correction for CDP is generally recommended, but there is no agreement in literature on the ideal treatment and in some cases, with mild impairment of the knee function, observation alone has been suggested. The decision about a surgical treatment can be difficult and depends on the degree of disability of the patient. Keywords: Congenital dislocation of the patella, bilateral congenital dislocation, patella, Z-plasty quadriceps muscle, lateral retinaculum release, lack of active knee extension.