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Multiple Epiphyseal Dysplasia - Severe Proximal Femoral Dysplasia

Epiphyseal Dysplasia Multiple with Severe Proximal Femoral Dysplasia


Presentation

  • Part IV presents congenital and developmental disorders, such as congenital femoral deficiency, hemimelias, tibial pseudoarthrosis and Blount disease, while part V rounds out the book with chapters on sequelae related to different etiologies and their[books.google.com]
  • CASE REPORT A male, three-year-old patient presented pain and edema in his right knee for three days. Along the previous two months the patient presented abnormality in gait, more significantly when running.[rb.org.br]
  • SCFE will often present with knee pain, thigh pain, groin pain, or hip pain. SCFE should be considered when pain in one of these areas is present.[hawaii.edu]
  • Introduction A form of dwarfism characterized by irregular, delayed ossification at multiple epiphyses spectrum of disorders with a spectrum of phenotypes Epidemiology prevalence approximately 1:10000 presents between age 5-14 years of age location caused[orthobullets.com]
Pain
  • Utilize the very latest approaches in hip surgery including hip resurfacing, hip preservation surgery, and treatment of hip pain in the young adult; and get the latest information on metal-on-metal hips so you can better manage patients with these devices[books.google.com]
  • Pain occurs secondary to pathologic impingement of the deformed proximal femur against the anterolateral acetabulum (ie, femoroacetabular impingement).[journals.lww.com]
  • SCFE will often present with knee pain, thigh pain, groin pain, or hip pain. SCFE should be considered when pain in one of these areas is present.[hawaii.edu]
  • The diagram shows a practical approach to hip pain and a new limp. Click on the image to enlarge.[radiologyassistant.nl]
  • At physical examination, a moderate swelling and local warmth were observed, with pain and flexion limitation.[rb.org.br]
Disability
  • This market-leading text covers everything from basic examination and psychological assessment to electrodiagnosis, therapeutic exercise, orthotics and assistive devices, and in-depth clinical management of the full range of childhood disabilities and[books.google.com]
  • […] dysplasia;;; with miniepiphyses 40 166119 Isolated osteopoikilosis 41 166272 Goldblatt syndrome 42 166277 Suarez-Stickler syndrome 43 166286 Porokeratotic eccrine ostial and dermal duct nevus 44 166100 Stickler syndrome type 3 45 166108 Intellectual disability[hive-worx.com]
  • Early diagnosis is key; the more time spent with the proximal femur and acetabulum correctly aligned, the less the long-term deformity, dysplagia, and disability.[teamrads.com]
  • Femoral head deformity is well tolerated in short and intermediate terms, but 50% of patients develop disabling arthritis in the sixth decade of life. [ 10 ][patient.info]
  • As in this case there is often a protracted course and marked disability. The osteomalaciacauses repetitive episodes of fracturing which leads to the marked sclerosis of the bone and in this case varusdeformity of the femoral necks.[hss.edu]
Surgical Procedure
  • Surgical procedures It is possible to look at the surgical procedures required in relation to the needs of each of the Groups I and II patients.[oandplibrary.org]
  • Relatively speaking, the classification of Treble et al 14 can guide the surgeon as to whether surgical treatment is needed; however, our classification is more helpful in choosing the correct surgical procedure.[healio.com]
  • Additional surgical procedures As your child grows, the importance of having both a functional knee and foot becomes more important.[chop.edu]
  • No specific guidelines about contraindications are available; contraindications to surgical intervention to treat MED are the same as those for any other planned surgical procedure.[emedicine.medscape.com]
  • procedures almost always detract from their ambulatory independence rather than benefit them unless they have severe foot deformities The treatment of these patients must be individualized on the basis of the limb length discrepancy, adequacy of the[flinders.edu.au]
Tall Stature
  • In spite of the tall stature in the subject reported here contrasting with these observations, it does not appear appropriate to create yet another different entity, since we are dealing with a continuous spectrum of related conditions.[jmg.bmj.com]
  • ) and prominence of ASIS Treatment No specific treatment May require quads-plasty or realignment Marfans disease Inheritance Autosomal dominant (variable expression) Incidence About 3 / 100,000 (25 - 30% appear to be new mutations) Clinical Features Tall[flinders.edu.au]
Fracture
  • See how to proceed better than ever before with 45 surgical videos demonstrating hip revision, patellar tendon allograft preparation, open reduction internal fixation clavicle fracture, total shoulder arthroplasty, total elbow arthroplasty, and more -[books.google.com]
  • Fracture The diagnosis of an occult hip fracture can be elusive. Often the initial radiographs are normal, especially in the elderly os-teoporotic patient.[arthritisresearch.us]
  • Such a scenario is often found in children who have a non-displaced fracture of the tibia, known as the toddler's fracture. The toddler's fracture usually is a spiral fracture of the distal tibia without displacement.[hawaii.edu]
  • More frequently present in the setting of rib fractures with a clavicle fracture as in this case, isolated clavicle fractures can also rarely present with a pneumothorax.[hss.edu]
  • A toddler's fracture (image) may be one of the possible underlying causes. Corner fractures in a case of child abuse Corner- or bucket handle fractures should raise the suspicion of non-accidental injury (NAI) See section on child abuse.[radiologyassistant.nl]
Coxa Vara
  • The coxa vara deformity was corrected satisfactorily, and the femoral head was covered completely by the acetabulum.[healio.com]
  • The proximal femur shows features of congenital coxa vara i.e., a Fairbank's triangle which is not seen in rickets.[orthopaedicsone.com]
  • Failure of ossification of midline junction of bones Treatment Little if any functional defect Coxa vara if present may require osteotomy Pyknodysostosis Inheritance Autosomal recessive Clinically Short stature Skull dysplasia with failed closure of sutures[flinders.edu.au]
  • Epiphyseal fragmentation is evident by 10 years of age. [24] Increased fragmentation of the capital epiphysis is associated with an early onset of osteoarthritis. [25] Coxa vara may be seen in some patients.[emedicine.medscape.com]
  • There may be dislocation of the hip and other joint deformities such as coxa vara dislocated patella or scoliosis which develop with growth. In early life, the vertebral bodies may show a coronal cleft.[boneandspine.com]
Skeletal Dysplasia
  • Underlying conditions comprise part III – specific metabolic, neuromuscular and tumor-related conditions, along with arthrogryposis, Osteogenesis Imperfecta and various skeletal dysplasias.[books.google.com]
  • Skeletal dysplasias are a heterogeneous group of more than 200 disorders characterized by abnormalities of cartilage and bone growth CONSIDERATIONS A primary objective in the evaluation of skeletal dysplasias is to determine lethal from non lethal dysplasias[perinatology.com]
  • Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively common skeletal dysplasias resulting in short-limbed dwarfism, joint pain, and stiffness.[scienceopen.com]
  • The skeletal dysplasias. Weinstein SL, Flynn JM, eds. Lovell and Winter’s Pediatric Orthopaedics. 7th ed. Philadelphia: Lippincott Williams & Wilkins; 2014. Vol 1: 177-217. Sebik A, Sebik F, Kutluay E, et al.[emedicine.medscape.com]
Hip Pain
  • Utilize the very latest approaches in hip surgery including hip resurfacing, hip preservation surgery, and treatment of hip pain in the young adult; and get the latest information on metal-on-metal hips so you can better manage patients with these devices[books.google.com]
  • Newman The imaging workup of the patient with hip pain should begin with plain or routine radiographs of the pelvis and hips.[arthritisresearch.us]
  • The diagram shows a practical approach to hip pain and a new limp. Click on the image to enlarge.[radiologyassistant.nl]
  • None of the children had symptoms or clinical signs in the hip, only one had a history of hip pain for five days, two months prior, which was diagnosed at the time as transient synovitis.[colombiamedica.univalle.edu.co]
  • Symptoms do sometimes develop before puberty, and include waddling gait, hip pain, and joint contracture. In older children with multiple epi- Fig. 4.36. Trichorhinophalangeal syndrome type I in a 12-year-old girl.[rrnursingschool.biz]
Brachydactyly
  • At puberty, brachydactyly became apparent. On physical examination at the age of 36 years, he was 180 cm tall, the same as his father; his mother was 174 cm and a brother 183 cm tall.[jmg.bmj.com]
  • […] callosum,hydrocephalus, cardiac defect, kidney malformation AD Type I (most common) Telephone receiver femora, normal skull Lethal Type II Cloverleaf-shaped skull Lethal Achondroplasia Common FGFR3 AD Heterozygous Macrocephaly Rhizomelia Trident hand Brachydactyly[perinatology.com]

Workup

  • Probably needs a metabolic workup to r/o rickets. Also get x rays of the remaining joints of upper extremity. Regards, Sanjeev Sabharwal Pediatric Orthopedics E-mail: sabharsa@umdnj.edu FROM: K I.[orthopaedicsone.com]
  • Newman The imaging workup of the patient with hip pain should begin with plain or routine radiographs of the pelvis and hips.[arthritisresearch.us]

Treatment

  • Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.com]
  • The staged nature of treatments requires ongoing monitoring and care to determine optimal timing for each phase and determine if treatments are working as planned.[chop.edu]
  • Management There is no consensus for the optimum treatment. The aim of treatment is to maintain the sphericity of the femoral head and the congruency of the femur-acetabulum relationship to prevent secondary degenerative arthritis.[patient.info]

Prognosis

  • Gloomy prognosis [ Back to the Top ] Metaphyseal Dysplasias (hyperdysplasias) 1.[flinders.edu.au]
  • A flat-topped incongruent head has the worst prognosis. It can rule out hinge abduction where the enlarged femoral head impinges on the acetabular rim. Hip aspiration if a septic joint is suspected.[patient.info]
  • Because of its evolution and good prognosis, treatment has not been determined necessary for these patients. X-ray control is recommended to assess the resolution of the pathology.[colombiamedica.univalle.edu.co]
  • Treatment and prognosis Usually, no treatment is required as the bone lesions usually do not progress beyond puberty. If a mass effect is severe, then surgical decompression may be considered.[radiopaedia.org]
  • Osteomyelitis is treated with i.v. antibiotics and has a good prognosis if detected promptly. Brodie's abscess A subtype of osteomyelitis which is typically seen in children is a Brodie's abscess.[radiologyassistant.nl]

Etiology

  • Part I covers general principles and techniques, including etiology, clinical evaluation, imaging as well as different surgical methods.[books.google.com]
  • The exact etiology of MED remains unclear.[emedicine.medscape.com]
  • Action of head against acetabulum INDUCES spherical ‘ball’ in spherical ‘socket’ Neonate pelvis mostly cartilage; fetal hip flexion limited XR landmarks, measurements ETIOLOGIES: Some genetic/ethnic influence/tendency (Native American, Lapp, etc.)[teamrads.com]
  • Major etiologic agents include Staphylococcus aureus and Streptococcus pyogenes (group A beta-hemolytic strep). In neonates, group B streptococcus may be causative.[hawaii.edu]
  • It is a rare disease, with a reported incidence of 1:1.000.000, whose etiology still remains unknown. However, it is known that such condition is connected with the group of osteochondromatoses(1,2).[rb.org.br]

Epidemiology

  • Introduction A form of dwarfism characterized by irregular, delayed ossification at multiple epiphyses spectrum of disorders with a spectrum of phenotypes Epidemiology prevalence approximately 1:10000 presents between age 5-14 years of age location caused[orthobullets.com]
  • Epidemiology Usually seen in a 4- to 8-year-old boy with delayed skeletal maturity. Approximately 1 in 1,200 children aged under 15 years. Male to female ratio: 4-5:1. [ 2 ] Rare in non-Caucasians.[patient.info]
  • Congenital generalised bone dysplasias: a clinical, radiological, and epidemiological survey. J Med Genet . 1989; 26(1):37-44. Wynne-Davies R, Gormley J. The prevalence of skeletal dysplasias.[healio.com]
  • Epidemiology: Clinical Findings: Patients typically present later in childhood with joint pain in the lower extremities, decreased range of motion, gait disturbance, or angular deformities of the knees, such as genu varum or valgum.[posna.org]
  • Epidemiologically, it has been determined that this condition involves boys in greater proportion than girls in a ratio of 5:1 and in those under 5 years of age 1 , 4 .[colombiamedica.univalle.edu.co]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology delay of epiphyseal endochondral ossification lack of osseous support yields secondary articular cartilage deformity most commonly affects proximal femur and proximal humerus Genetics autosomal dominant is most common mutation in COMP[orthobullets.com]
  • Pathophysiology. The blood supply of the femoral head changes with time and growth. Initially the main source of nutrition is supplied directly by nutrient vessels within the femoral head.[hawaii.edu]
  • Pathophysiology Cartilage oligomeric matrix protein (COMP) and matrilin-3 (MATN3) are thought to bridge extracellular matrix proteins. Collagen IX is important for the adhesive properties of cartilage.[emedicine.medscape.com]
  • MR is extremely sensitive in the detection of pathophysiologic changes associated with stress injuries.[arthritisresearch.us]

Prevention

  • The aim of treatment is to maintain the sphericity of the femoral head and the congruency of the femur-acetabulum relationship to prevent secondary degenerative arthritis.[patient.info]
  • MR : pre- and post-op uses; evaluates cartilage, labrum, ligamentum teres, soft tissue abnormalities such as thickened ligamentum teres, hypertrophic pulvinar (fibrofatty debris preventing reduction of head into acetabulum), or folded/abnormal labrum[teamrads.com]
  • It prevents excessive abduction and extension. Ischiofemoral: Located posteriorly. It originates from the ischium of the pelvis and attaches to the greater trochanter of the femur. It prevents excessive extension of the femur at the hip joint. 9.[slideshare.net]
  • In the severest cases, with cerebral defects, surgery must usually be limited to the management of hip adduction deformities by adductor release to allow easier nursing and to try to prevent dislocation.[boneandspine.com]
  • SCFE is treated with surgical fixation to prevent further slippage. Avascular necrosis of the femoral epiphysis is a potential complication. JIA: Effusion of the right hip in JIA. The synovium is thickened and loads Gadolineum contrast (right).[radiologyassistant.nl]

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