Congenital + dislocation

OBJECTIVE: The choice approach to treating congenital dislocation of the hip joint is total hip replacement (THR). One of the severe but uncommon complications of THR is nerve damage. The most common nerve injury associated with total hip arthroplasty (THA) is sciatic nerve palsy, and the second typical nerve damage with THA is femoral nerve paralysis. PATIENTS AND METHODS: In this prospective cohort study, 35 patients with type 4 high riding developmental dysplasia of the hip (DDH) who were candidates for THA were enrolled...

When planning an adolescent's primary surgery for recurrent patella instability, the surgeon must weigh the failure risk of performing medial patellofemoral reconstruction (MPFLR) versus the potential morbidity of adding a concomitant bony procedure, such as tibial tubercle osteotomy (TTO). In this age group, isolated MPFLR is an excellent operation with high clinical success, low failure rates, and favorable complication profile. Patients with high grade J-sign and severe trochlea dysplasia, apprehension into deep flexion, and extremes of bony malalignment, including elevated tibial tubercle-trochlear groove distance may benefit from "doing more" than MPFLR alone...

Understanding the anatomy of the vertebral artery is essential while manipulating the craniovertebral joint during surgery. Its anomalous course in congenital atlantoaxial dislocation makes it more vulnerable to injury. Preoperative dedicated computed tomography (CT) angiography helps identify the artery's position and plan for surgical procedure. A 13-year-boy presented with neck pain and spastic quadriparesis for 1 year. Radiological imaging of the craniovertebral junction revealed atlantoaxial instability with basilar invagination...

BACKGROUND A Sömmering ring is a post-cataract opacity (PCO) formed due to the adhesion of anterior capsule edges to the posterior capsule. It is mostly associated with aphakic cases but has also been reported in pseudophakic eyes. It becomes clinically important when dislocation occurs. The purpose of this manuscript was to report a case of anterior dislocation of the Sömmering ring 14 years after lensectomy for congenital cataract. CASE REPORT We describe a 20-year-old man who presented to the emergency room with pain, photophobia, redness, and blurry vision in the right eye...

BACKGROUND: Congenital ectopia lentis is characterized by dislocation of the lens caused by partial or complete abnormalities in the zonular fibers. It can be caused by either systemic diseases or isolated ocular diseases. Gene detection techniques can provide valuable information when an etiological diagnosis is challenging. Herein, we report the case of a six-year-old girl with a confirmed diagnosis of isolated ectopia lentis caused by a compound heterozygous ADAMTSL4 gene mutation...

BACKGROUND: SwiftNINJA (Merit Medical Systems, USA) is a novel steerable microcatheter intended for coronary and peripheral vascular interventions. We evaluate and report the first use of SwiftNINJA in pediatric catheterization of congenital heart defects (CHDs). METHODS: We performed a retrospective clinical data review of children with CHDs in whom SwiftNINJA was used during cardiac catheterization between April 2022 and June 2023. Utility, application, and standard safety were described comprehensively...

No abstract text is available yet for this article.

INTRODUCTION AND IMPORTANCE: Traumatic atlanto-axial dislocation (AAD) is relatively uncommon and can pose life-threatening risks. In this case, we describe a patient with a combination of AAD, an anterior arch fracture of the atlas, and a rare congenital anomaly known as atlanto-occipital assimilation (AOA). CASE PRESENTATION: A 70-year-old man presented with posterior neck pain and right-sided torticollis following an accident that collision with a car while riding an electric scooter...

Developmental dysplasia of the hip (DDH) is a condition characterized by changes in joint formation within the last months of intrauterine life or the first months after birth. Developmental dysplasia of the hip presentation ranges from femoroacetabular instability to several stages of dysplasia up to complete dislocation. Early diagnosis is essential for successful treatment. Clinical screening, including appropriate maneuvers, is critical in newborns and subsequent examinations during the growth of the child...

Basilar invagination (BI) is characterized by rostral dislocation of the cervical spine toward the skull base. The craniometrics of the skull base have shown significant differences among craniocervical junction malformations. The sphenoid bone is the center of the skull base; however, no study has evaluated this bone in cases of BI. This was a cross-sectional study of MRI databanks from two institutions of the author's practice between 1985 and 2020. The craniometrics of the sphenoid bone were measured in BI patients and controls...

INTRODUCTION: Joubert syndrome is a rare disease of genetic origin with autosomal recessive inheritance and extreme genetic heterogeneity with more than 40 causative genes. Joubert syndrome 7 is caused by mutations in the RPGRIP1L gene. PATIENT CONCERNS: Our report describes a pediatric patient with clinical features compatible with JS type 7 such as hypotonia, developmental delay and aplasia of the cerebellar vermis. DIAGNOSIS: The clinical features and the MRI of the head and neck which showed alterations at the level of the posterior fossa, with absence of the vermis and horizontal disposition of the cerebellar peduncles, were compatible with Joubert syndrome...

Background: Split-hand/foot malformation type 1 (SHFM1) refers to the group of rare congenital limb disorders defined by the absence or hypoplasia of the central rays of the autopods with or without accompanying anomalies, such as hearing loss, craniofacial malformation, and ectodermal dysplasia. Consequently, the condition is characterized by clinical variability that hinders diagnostic and counseling procedures. SHFM1 is caused by pathogenic variants affecting the DLX5/6 genes and/or their tissue-specific enhancers at the 7q21...

CHST3-related chondrodysplasia with congenital joint dislocations (CDCJD, #MIM 143095), is a rare genetic skeletal disorder caused by biallelic loss of function variants in CHST3. CHST3 is critical for the sulfation of chondroitin sulfate. This study delineates the clinical presentation of nine individuals featuring the key symptoms of CDCJD; congenital joint (knee and elbow) dislocations, short trunk short stature progressive vertebral anomalies, and metacarpal shortening. Additional manifestations include irregular distal femoral epiphysis, supernumerary carpal ossification centers, bifid humerus, club foot, and cardiac abnormalities...

No abstract text is available yet for this article.

Developmental dysplasia of the hip (DDH), if uncorrected, can result in several chronic abnormalities, including chronic hip pain, degenerative arthritis, and gait abnormalities. The outcome of DDH generally depends on the age of presentation; a worse prognosis is linked to a higher age of presentation. Although treatment continues to be a challenge, recent advancements in the field have improved our understanding of the disease, which has resulted in advancements in DDH surveillance during infancy and the reduction of complications with early intervention...

In patients with congenital pubic diastasis, who present with polytrauma injury, pubic diastasis could be falsely attributed to the traumatic event. This generally occurs in asymptomatic patients whose anomaly is not diagnosed before the traumatic event. In this report, we present a case of a 26-year-old male with fracture-dislocation of the left hip and congenital agenesis of pubic bones that was initially misdiagnosed as post-traumatic pubic diastasis due to the patient's reduced consciousness. A closer examination led to noticing his micropenis and the scar from the earlier surgical intervention, and thereby, suspicion of the congenital etiology of the pubic diastasis, later confirmed by pre-trauma radiography...

(1) Transcatheter closure of perimembranous ventricular septal defects (PmVSD) is becoming more attractive and effective with the development of new occluders. The aim of this study was to report a single-center experience in PmVSD closure using the Lifetech Konar-multifunctional occluder (MFO). (2) From March 2019 to October 2022, 43 consecutive patients were enrolled in the study. Among them, 13 had multifenestrated PmVSD including 5 Gerbode-type defects. (3) There were 23 males/20 females, and the median age was 17 years (range 2-68 years)...

CASE: This is a case of a female patient born with thrombocytopenia-absent radius syndrome, with bilateral upper extremity phocomelia, bilateral hip dislocations, and congenital fusion of the right knee with progressively worsening flexion contracture. At age 3 years and 5 months, the patient was treated with excision of the knee ankylosis and Van Nes rotationplasty. This proved durable at age 20 years (final follow-up) without any need for further surgery and without complication. CONCLUSION: This is the first known report of Van Nes rotationplasty as a durable treatment option in the management of congenital knee ankylosis, which may avoid reoperation and eliminate risk of recurrence...

BACKGROUND: In Korea, there have been no reports comparing the prevalence of major congenital anomalies with other countries and no reports on surgical treatment and long-term mortality. We investigated the prevalence of 67 major congenital anomalies in Korea and compared the prevalence with that of the European network of population-based registries for the epidemiological surveillance of congenital anomalies (EUROCAT). We also investigated the mortality and age at death, the proportion of preterm births, and the surgical rate for the 67 major congenital anomalies...

INTRODUCTION: Chondro-epiphyseal separation of the distal humerus is a rare injury, which can occur as a consequence of excessive traction on the upper extremity accompanying a dystocic birth or one complicated by cephalopelvic disproportion. Such fracture patterns can also result from a combination of rotatory and shear forces, also typically seen following child abuse. It can be easily mistaken for a posterior elbow dislocation, creating a delay in diagnosis. Since unossified cartilage cannot be seen radiographically, these injuries are better appreciated by ultrasound or magnetic resonance imaging...