Presentation
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]
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]
Fibrous dysplasia is found predominantly in children and young adults, with ~75% of patients presenting before the age of 30 years (highest incidence between 3 and 15 years). In polyostotic form, patients usually present by 10 years old. [radiopaedia.org]
Case 132 Gout Gout is often a difficult diagnosis as it can present in so many ways. [hss.edu]
Entire Body System
- Asymptomatic
All patients in this series remained asymptomatic, without clinical signs, agreeing with the literature in that most are asymptomatic. Very few patients had antecedence of synovitis 4, 6. [colombiamedica.univalle.edu.co]
If asymptomatic, it does not require treatment. [radiopaedia.org]
Congenita is rare Tarda is common Age at diagnosis in congenita evident in the first months of life and in the Tarda form may remain asymptomatic Clinical Features (Congenita) Obliteration of the marrow ® pancytopenia, bleeding, anaemia Failure to thrive [flinders.edu.au]
The condition itself is asymptomatic and the joints will develop normally. Multiple epiphyseal dysplasia Multiple epiphyseal dysplasia can mimick Perthes disease as it may manifest primarily in the hips. It is a rare hereditary skeletal dysplasia. [radiologyassistant.nl]
If asymptomatic, no treatment is needed. Sever's disease results in a painful heel and limping. It is most common in active children between 9 and 12 years. [hawaii.edu]
- Collapse
Symptoms occur with subchondral collapse and fracture. Presentation It presents with pain in the hip or knee and causes a limp. [patient.info]
The images show: Collapse and sclerosis of the femoral head and metaphyseal lucency. Progression to fragmentation and development of a short, broad collum. Developing coxa magna deformity. [radiologyassistant.nl]
Areas of AVN do not have a striking degree of edema unless they have collapsed or are collapsing. In that situation, again there is subchondral fracturing that is precipitating the edema. [hss.edu]
Instances of rapidly (within months) destructive hip disease are well recognized, often being followed by complete collapse and fragmentation (Bock et al. 1993). [rrnursingschool.biz]
[…] of age), bilateralism (50% vs. 10%) 8, and a calmer presentation in Meyer�s dysplasia; radiological signals in Perthes disease permit staging the disease, while in dysplasia there is no fragmentation, condensation, subchondral fracture, or epiphysis collapse [colombiamedica.univalle.edu.co]
- Weakness
In the case of our patient, the Trendelenburg test was negative for pelvic tilt on either side, indicating that the cause of his limp was not due to muscle weakness, nor was the condition present long enough to result in atrophic weakness of the gluteus [hawaii.edu]
Often children with PFFD have other bone and muscle disorders — such as malrotation, limb-length discrepancies, fibular hemimelia, joint instability and muscle weakness — that also must be addressed. [chop.edu]
Delays in walking or running ® presentation Also pain or weakness of affected limbs Delayed puberty and hypo-gonadism, dry hard skin, dental caries, ocular proptosis, anaemia and hepatosplenomegally may develop X-Rays Fusiform swelling / expansion of [flinders.edu.au]
The proband and his father did not show muscle weakness and pain suggesting myopathy. There was no Gower sign and Trendelenberg sign on physical examination. The level of creatine kinase and lactate were normal. [bmcmusculoskeletdisord.biomedcentral.com]
Limitation of joint motion, stiffness, weakness, flexion deformity, atrophy, contracture, and epiphyseal overgrowth have also been reported in cases of intracapsular os-teoid osteoma. [arthritisresearch.us]
- Swelling
Irregular ossification of tarsal bones is common and, when they occur in the absence of pain or swelling, the diagnosis should be that of a normal variant. However when there is pain or swelling, Kohler's disease is present. [hawaii.edu]
At physical examination, a moderate swelling and local warmth were observed, with pain and flexion limitation. [rb.org.br]
Cleft palate, swelling of the ear pinna, and hitch hiker thumb were absent. [jmg.bmj.com]
[…] real incidence Usually evident early in childhood Clinical Features Great variation in distribution and extent of condition LLD a common feature Genu valgum may also be present Hands involved may ® grotesque swelling of digits Bowing of long bones also [flinders.edu.au]
Clinical features of autosomal recessive MED associated with DTDST mutations include scoliosis and abnormal findings such as clubfoot, cleft palate, cystic ear swelling, and clinodactyly are present at birth in approximately 50% of individuals [ 16 ]. [bmcmusculoskeletdisord.biomedcentral.com]
- Sepsis
The prompt and correct diagnosis of septic hip is essential, and the films must be evaluated carefully for evidence of joint space narrowing, osteoporosis, and loss of subchondral bone in the roof of the acetabulum, a very important sign of hip joint sepsis [arthritisresearch.us]
Gastrointestinal
- Failure to Thrive
At this young age, the presentation can be rather non-specific, and infants may present only with a fever and failure to thrive. Most cases are hematogenous, and may be a sequela of a respiratory tract infection. [radiologyassistant.nl]
Additional features in the cataract -microcephaly-failure to thrive-kyphoscoliosis syndrome (Camfak syndrome, OMIM 212540) include severe mental retardation, joint contractures, Perthes-like changes about the hips, and bilateral hip dislocation (Scott-Emuakpor [rrnursingschool.biz]
[…] in neonatal period or stillborn (Tarda) Failure to thrive Bossing of the skull Bowing of the ribs Flaring of the ends of long bones Fractures and angular deformities Short stature Lose deciduous teeth early due to caries from poor enamel (Mild adult [flinders.edu.au]
Musculoskeletal
- Fracture
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]
AD Nonlethal Type II Poor ossification of skull Blue sclera Micromelia with fractures and campomelia Narrow thorax with or without rib fractures Platyspondyly Generalized demineralization Hydrops AD Lethal Type III Poor ossification of skull Sclera may [perinatology.com]
- 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]
Proximal femoral osteotomy Osteotomy of the proximal femur is a most useful procedure in those children who have an associated coxa vara. [oandplibrary.org]
- Normal Stature
[…] with tall-normal stature has not been predicted. [jmg.bmj.com]
Recessively inherited multiple epiphyseal dysplasia with normal stature, clubfoot, and double layered patella caused by a DTDST mutation. Journal of Medical Genetics, 36, 621–624. [link.springer.com]
[…] sclera and normal hearing. [slideshare.net]
View Article PubMed Google Scholar Superti-Furga LN A, Riebel T, Eich G, Steinmann B, Spranger J, Kunze J: Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. [bmcmusculoskeletdisord.biomedcentral.com]
- Joint Deformity
Treatment of Dysplasia Epiphysealis Punctata In infancy, passive joint movements, or splints for hip dislocation or foot deformities suffice until the natural progress of the disease is apparent. [boneandspine.com]
The spectrum of hip joint deformity ranged from mild to severe. [healio.com]
[…] pain waddling gait Physical exam joint deformities from joint incongruity hips are most common joint involved valgus knee deformity common early OA joint contractures short, stubby fingers and toes normal neurologic exam normal intelligence spine is [orthobullets.com]
The exostoses of metachondromatosis occur predominantly in the digits and, unlike those of hereditary multiple exostosis, point toward the nearby joint and do not cause shortening or bowing of the long bone, joint deformity, or subluxation. · Langer-Giedion [aeomc.blogspot.com]
- Joint Stiffness
The main reports were of pain in the hips or knees and waddling gait associated with joint stiffness. The familial form was observed in 2 patients from 1 family, and the other cases were sporadic. [healio.com]
Becomes evident in early childhood ® bony lump or stiffness Usually unilateral involvement with one limb and only half of the epiphysis Common sites the tarsus, distal femur & proximal tibia Irregular bony masses protrude form the epiphysis 70% present [flinders.edu.au]
Psychiatrical
- Suggestibility
We therefore suggest that MIM entry 226900 may be definitively assigned to “autosomal recessive multiple epiphyseal dysplasia” caused by DTDST mutations. [jmg.bmj.com]
{ 171-81 } } Eli Borrego, David Michael Farrington, Fergal Downey Published 2014 in Revista espanola de cirugia ortopedica y… DOI: 10.1016/j.recot.2013.12.001 The prevalence of bone dysplasias is estimated to be one case per 1,000 inhabitants, which suggests [semanticscholar.org]
Some evidence suggests that EXT1 and EXT2 may have tumor suppressor activity [ Hecht et al 1995, Raskind et al 1995, Hecht et al 1997 ]. [aeomc.blogspot.com]
The treatment alternatives and their indications are discussed in detail and a treatment plan suggested. [oandplibrary.org]
For example, soft tissue calcifications around the hip due to hydroxyapatite deposition disease suggest the diagnosis of calcific tendinitis or bursitis. [arthritisresearch.us]
Neurologic
- Waddling Gait
Physical exam is notable for a valgus left knee and a waddling gait. Radiographs of the pelvis, knees, and left hand are provided in figures A-C. Genetic testing reveals a mutation of the cartilage oligomeric matrix protein(COMP). [orthobullets.com]
Both had a negative Trendelenburg’s sign and mild residual waddling gait, but had no difficulties with activities of daily living. [healio.com]
Patients present with a waddling gait, pain, fatigue and short stature. Contrary to Perthes disease, the abnormalities are usually symmetric. The knees, ankles and wrists are usually also involved. [radiologyassistant.nl]
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]
gait, restriction of joint mobility, pain and stiffness in the weight-bearing joints and sometimes short stature. [bmcmusculoskeletdisord.biomedcentral.com]
- Abnormal Gait
Joint abnormalities included angular deformity, limited range of motion (ROM), and pain (Table). Four patients exhibited duckling gait, positive Trendelenburg’s sign, and limited abduction on the bilateral hips. [healio.com]
Found typically in older women it is thought to arise in the setting of abnormal gait that produces a hypertrophy of the tensor fascia latae. It is most typically found in the setting of total hip arthroplasty with deficient hip abductors. [hss.edu]
- Myelopathy
[…] patella hand may show short, stunted metacarpals hyperextensible fingers foot short metatarsals Differential Diagnosis Spondyloepiphyseal dysplasia distinct in that it also involves the spine typically with a sharp curve atlantoaxial instability cervical myelopathy [orthobullets.com]
Cardiopulmonary function in elderly patients with cervical spondylotic myelopathy. J Orthop Sci 17(1):3-8,2012. 阿部雅志, 伊藤高規,鈴木希央,素村健司:高位頸骨骨切り術における深部静脈血栓症の発生.中部整災誌55(3):617-618, 2012. [hama-med.ac.jp]
- Irritability
Surgery is performed to address angular deformities; pain caused by irritation of skin, tendons, or nerves; and leg-length inequalities. [aeomc.blogspot.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: [email protected] 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]
As for grade III hips, no satisfactory outcomes of surgical treatment have been reported. [healio.com]
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]
Etiology: The genetic basis for this disorder is now reasonably well understood. MED is a heterogeneous disorder. [posna.org]
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]
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]
JAN-FEB 2003; 22 (1) : 53-75Smith-RKW; Birch-HL; Goodman-S; Heinegard-D; Goodship-AEThe influence of ageing and exercise on tendon growth and degeneration - hypotheses for the initiation and prevention of strain-induced tendinopathiesCOMPARATIVE-BIOCHEMISTRY-AND-PHYSIOLOGY-A-MOLECULAR-AND-INTEGRATIVE-PHYSIOLOGY [malattierare.regione.veneto.it]
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]