coxa valga

PURPOSE: The aim of this article was to compare longitudinal changes in hip morphology in cerebral palsy (hypertonic) and spinal muscular atrophy (hypotonic) to examine the influence of muscle tone on development of hip displacement. METHODS: Children with spinal muscular atrophy (Types I and II) and cerebral palsy (Gross Motor Function Classification System IV and V) with hip displacement (migration percentage >30%) were included. Head shaft angle, migration percentage, and acetabular index were measured at T1 (1-2...

Stickler syndrome is a multisystem connective tissue disorder caused by mutations in collagen genes that can present with craniofacial, ocular, audial, or skeletal abnormalities. Here, we report on a male patient with a COL2A1 missense mutation (c.647G>A; p.Gly216Asp). He complained of an out-toeing gait and restricted hip mobility. Radiographs showed broad and elongated femoral necks with coxa valga. An alpha angle of 119° and 96° for his left and right femur, respectively, and almost no femoral head-neck offset, suggested a femoroacetabular impingement...

INTRODUCTION: Saul Wilson syndrome (SWS) is a rare congenital syndrome characterized by a variety of symptoms, mostly skeletal changes. Saul and Wilson were the first to describe children with extremely short stature and craniofacial dysmorphism. CASE REPORT: We present a case of a 15-years-old boy with clinical and radiological characteristics of SWS. Genetic examination identified a pathogenic heterozygous variant in the COG4 gene. Magnetic resonance imaging revealed a critical stenosis of the cranio-cervical junction (CCJ) which required surgical treatment to attempt sufficient neurological decompression...

Skeletal adaptation is substantially influenced by mechanical loads. Osteocytes and their lacuno-canalicular network have been identified as a key player in load sensation and bone quality regulation. In the femoral neck, one of the most common fracture sites, a complex loading pattern with lower habitual loading in the superolateral neck and higher compressive stresses in the inferomedial neck is present. Variations in the femoral neck-shaft angle (NSA), i.e., coxa vara or coxa valga, provide the opportunity to examine the influence of loading patterns on bone quality...

CASE: Bilateral valgus slipped capital femoral epiphysis (SCFE) is a rare condition with few cases reported in the literature. However, there are no reports of bilateral unstable valgus SCFE. We report a unique case of bilateral acute-on-chronic unstable valgus SCFE with severe coxa valga in a 9-year-old girl. She was treated with bilateral capital realignment procedure along with subtrochanteric osteotomy and had a good clinical outcome. CONCLUSION: We hitherto report a rare case of bilateral unstable valgus SCFE which was successfully managed...

Mucopolysaccharidosis type IV or Morquio Syndrome, is a lysosomal deposit disease, of autosomal recessive inheritance with a similar incidence in men and women. The clinical picture is of variable expressiveness, its phenotype is characterized by skeletal dysplasia that includes neck and short trunk, short stature, keel thorax, kyphosis, scoliosis, genus valgus, flat foot, coxa valga, gait disorders, instability of the cervical spine and wedge or ovoid vertebrae. The treatment is symptomatic, with enzyme replacement...

We report three additional cases of intra-articular acetabular osteochondroma in multiple hereditary exostoses patients in order to raise the awareness of this rare location, to prompt early diagnosis, and to present various treatment options according to the patient's condition. A 2.5-year-old boy presenting with an out-toeing gait had a large acetabular osteochondroma causing lateral displacement of the femoral head and acetabular dysplasia. Mass excision through hip subluxation via anterior approach and concomitant Dega osteotomy resulted in a congruent, well-developed, and well-covered hip joint at 11-year follow-up...

In recent years, a rare form of autosomal recessive brachyolmia associated with amelogenesis imperfecta (AI) has been described as a novel nosologic entity. This disorder is characterized by skeletal dysplasia (e.g., platyspondyly, short trunk, scoliosis, broad ilia, elongated femoral necks with coxa valga) and severe enamel and dental anomalies. Pathogenic variants in the latent transforming growth factor-β binding protein 3 ( LTBP3 ) gene have been found implicated in the pathogenesis of this disorder. So far, biallelic pathogenic LTBP3 variants have been identified in less than 10 families...

BACKGROUND: Guided growth at the proximal femur using one transphyseal screw corrects coxa valga and improves hip displacement in cerebral palsy. This study aimed to validate the effects of adding guided growth (GG) to soft tissue release (STR), in terms of decreasing the migration percentage (MP), compared to those with soft tissue alone. METHODS: This retrospective study comprised patients with cerebral palsy who underwent soft tissue release alone (Group STR) or soft tissue release plus guided growth (Group GG) for hip displacement (mean age, 8...

The hip joint involvement in multiple hereditary exostoses (MHE) occurs in 30-90%, causing pain and limitation of motion by femoroacetabular impingement, coxa valga, acetabular dysplasia, hip joint subluxation, and osteoarthritis. The purpose of this study was to investigate the clinical and radiographic outcomes of ten hips in seven patients treated by surgical dislocation and corrective osteotomies between 2004 and 2009. Surgical dislocation and excision of the osteochondromas and varus intertrochanteric osteotomies were performed in all cases when the neck-shaft angle was > 150°...

BACKGROUND: Gluteal muscle contracture (GMC) is a disease characterized by the limited function of the hip joint, knee pain, and abnormal gait. There is a lack of research on the effect of GMC on the hip joint structure to date. This study aims to analyze the association between GMC and the deformity of the hip and pelvis. METHODS: Standing anteroposterior pelvic radiographs of 214 patients (152 with gluteal muscle contracture and 62 without gluteal muscle contracture) were retrospectively collected...

Dancers possess a large degree of hip range of motion that results from a combination of innate and acquired osseous morphology and permissive soft tissues. Generalized hypermobility in dancers may predispose them to a spectrum of hip instability. The objective of this narrative review is to discuss the anatomical characteristics, pathogenesis, risk factors, clinical signs and symptoms, management, and outcomes of hip instability treatments in dancers.<br/> Methods: A retrospective search was performed beginning November 1, 2017, for English language articles regarding hip stability in the dancer...

Introduction . Morquio syndrome or mucopolysaccharidosis (MPS) type IV is a rare autosomal recessive lysosomal storage disease, characterized by abnormal metabolism of glycosaminoglycans associated with specific skeletal deformities, also known as dysostosis multiplex. Case Presentation . We present the case of a 23-year-old patient with advanced osteonecrosis of the femoral head (ONFH) on both sides due to Morquio syndrome. A diagnosis of mucopolysaccharidosis type IVB was made after extensive genetic profiling...

BACKGROUND: While the influences of acetabular dysplasia and overcoverage on hip arthritis have been studied, the impact of femoral neck-shaft angle on hip arthritis is much more poorly understood. The purpose of this study is to determine if a relationship exists between neck shaft angle and the development of osteoarthritis, a better understanding of which would be useful to surgeons planning osteotomies about the hip. METHODS: 533 cadaveric femora and acetabulae (1066 total) from the Hamann-Todd Osteological Collection (Cleveland, OH) were acquired...

BACKGROUNDS: This study aimed to investigate the characteristic deformities of the hip in multiple hereditary exostoses patients (MHE) and its association with the hip impingement syndrome. MATERIALS AND METHODS: Between 2001 and 2019, total 51 patients (102 hips) were evaluated in this study. Patients with MHE were classified to femoro-acetabular impingement (FAI) symptom group, ischio-femoral impingement (IFI) symptom group and non-impingement symptom group by comparing the symptoms, clinical signs and imaging studies...

OBJECTIVE: To summarize available evidence on the association between hip shape as quantified by statistical shape modeling (SSM) and the incidence or progression of hip osteoarthritis. DESIGN: We conducted a systematic search of five electronic databases, based on a registered protocol (available: PROSPERO CRD42020145411). Articles presenting original data on the longitudinal relationship between radiographic hip shape (quantified by SSM) and hip OA were eligible...

Morquio B disease (MBD) is an autosomal recessive GLB1 -gene-related lysosomal storage disease, presenting with a peculiar type of dysostosis multiplex which is also observed in GALNS -related Morquio A disease. MBD may present as pure skeletal phenotype ( pure MBD ) or in combination with the neuronopathic manifestations seen in type 2 (juvenile) or type 3 (late onset) GM1 gangliosidosis ( MBD plus ). The main skeletal features are progressive growth impairment, kyphoscoliosis, coxa/genua valga, joint laxity, platyspondyly and odontoid hypoplasia...

OBJECTIVE: To evaluate the influences of the femoral neck shaft angle (FNSA) on the location of the femoral stress fracture and to assess the potential differences in FNSA between fractured and normal femurs. MATERIALS AND METHODS: Thirty-seven patients with femoral stress fractures who underwent both plain hip radiographs and MRI, from January 2016 to September 2019, were retrospectively included. Patients were classified as having either femoral head stress fracture (group A, n = 26) or femoral neck stress fracture (group B, n = 11)...

Epiphyseal chondrodysplasia, Miura type (ECDM) is a skeletal dysplasia with tall stature and distinctive skeletal features caused by heterozygous NPR2 pathogenic variants. Only four families have been reported. We present a family with five affected individuals (mother, three sons, and daughter). The mother's phenotype was relatively mild: borderline tall stature and elongated halluces operated during childhood. The children were remarkably more severely affected with tall stature, scoliosis, and elongated toes and fingers leading to suspicion of Marfan syndrome...

KIF1A is a molecular motor for membrane-bound cargo important to the development and survival of sensory neurons. KIF1A dysfunction has been associated with several Mendelian disorders with a spectrum of overlapping phenotypes, ranging from spastic paraplegia to intellectual disability. We present a novel pathogenic in-frame deletion in the KIF1A molecular motor domain inherited by two affected siblings from an unaffected mother with apparent germline mosaicism. We identified eight additional cases with heterozygous, pathogenic KIF1A variants ascertained from a local data lake...