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Genochondromatosis Type 1


Presentation

  • This 2nd edition of Pediatric Orthopedic Deformities has been expanded to cover more regions and disorders and is being presented in 3 volumes.[books.google.com]
  • Surgical Anatomy PowerPoint Presentation: Thank You[authorstream.com]
  • Enchondromatosis is a rare skeletal disease present in two disorders known as ollier’s disease and maffiucci’s syndrome. Individuals affected with enchondromas are usually presented with single enchondromas, a benign cartilage forming tumor.[mybiosource.com]
  • Case presentation A 7-year-old girl presented with the classical phenotypic features of achondroplasia. Radiographic documentation showed the co-existence of metaphyseal enchondromatosis and development of spinal bony ankylosis.[jmedicalcasereports.biomedcentral.com]
  • Solitary endochondromas are most commonly discovered between 20 and 40 years of age but Ollier's disease tends to present before the age of 10 years. Boys are affected twice as often as girls.[patient.info]
Short Stature
  • Furthermore, deletions and point mutations of this gene can lead to idiopathic short stature (ISS) or certain bone dysplasias.[musculoskeletalkey.com]
  • […] atresia-mandibular hypoplasia-skeletal anomalies syndrome Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Short stature-webbed neck-heart disease syndrome[se-atlas.de]
  • Patients usually have a short stature (short limbs), with increased lumbar lordosis, barrel chest and kyphoscoliosis, genu valga or vara, facial anomalies, and may show clumsy movements [1].[egms.de]
  • PMID 6602353 Distinctive enchondromatosis with spine abnormality, regressive lesions, short stature, and coxa vara: importance of long-term follow-up. Kozlowski KS, Masel J. Am J Med Genet. 2002 Jan 22;107(3):227-32.[atlasgeneticsoncology.org]
  • Ear patella short stature syndrome (Meier Gorlin) AR Localised Skeletal Malformations (Dysostoses) A.[gamuts.isradiology.org]
Swelling
  • In the past patient gave history of hard swellings in the right hand and lower legs from the age of 9 years. The swellings were biopsied and reported as enchondroma. On and off he sustained fractures in hand swellings after trivial trauma.[ijnm.in]
  • Symptoms The symptoms of enchondromatosis tend to progress slowly with swelling and slow growth of the affected bones. In the severe cases, the dumbbell appearance of the long bone is evident.[mybiosource.com]
  • Ollier disease must be differentiated from other causes of multiple bony swellings.[healio.com]
Surgical Procedure
  • Hemiepiphysiodesis is a lesser surgical procedure than osteotomy and avoids the possible neurovascular complications of the latter, as well as the complications attendant on delayed union or malunion and surgical infection.[egms.de]
  • Seventeen patients were identified who underwent the surgical procedure; however, only 14 patients (6 females and 8 males) had available charts and radiographs for review. All patients were seen at the same hospital.[jlimblengthrecon.org]
  • Surgical procedures and prognostic factors for local recurrence of soft tissue sarcomas. Sugiura H, Nishida Y, Nakashima H, Yamada Y, Tsukushi S, Yamada K. J Orthop Sci. 2014 Jan;19(1):141-9.[meidai-seikei.jp]
Barrel Chest
  • Patients usually have a short stature (short limbs), with increased lumbar lordosis, barrel chest and kyphoscoliosis, genu valga or vara, facial anomalies, and may show clumsy movements [1].[egms.de]
Fracture
  • Orthopedic management including surgical treatment is discussed for: skeletal dysplasias; epiphyseal growth plate fracture-separations; lower extremity length discrepancies; and deformities of joints and epiphyses due to metabolic, inflammatory, infectious[books.google.com]
  • Pathological fracture at the regenerate bone is a concern given the lengthening done within or around the diseased bone.[jlimblengthrecon.org]
  • •Comparison Study of Different Approach (Deltoid Splitting Approach and Delto-pectoral Interval Approach) for Proximal Humeral Fractures. Clinics in Shoulder and Elbow. 2013;16:17-26.[m.blog.daum.net]
  • Usually asymptomatic, sometimes patients may present with pathological fractures.[ncbi.nlm.nih.gov]
Skeletal Dysplasia
  • Orthopedic management including surgical treatment is discussed for: skeletal dysplasias; epiphyseal growth plate fracture-separations; lower extremity length discrepancies; and deformities of joints and epiphyses due to metabolic, inflammatory, infectious[books.google.com]
  • Nearly 300 disorders are included in this entity; most of them are heritable diseases. 2 Although most of the diseases are rare, skeletal dysplasia as an entity is common.[mhmedical.com]
  • Delineation of Skeletal Dysplasias The discovery of new skeletal dysplasias has been an ongoing process since the 1940s.[musculoskeletalkey.com]
  • CINCA ; Section II Skeletal Dysplasias with Predominant Epiphyseal Involvement ; 12.[amazon.de]
Osteoporosis
  • المحتويات Chapter 18 The Spectrum of Pediatric Osteoporosis 439 Chapter 19 Osteogenesis Imperfecta 511 Chapter 20 Sclerosing Bone Dysplasias 541 Chapter 21 Parathyroid Disorders 557 Chapter 22 Fibrous Dysplasia 589 Chapter 23 Nutritional Rickets 625 Chapter[books.google.com]
  • ., 1999: Prevention of osteoporosis after cardiac transplantation: a prospective, longitudinal, randomized, double-blind trial with calcitriol Shimura, H.; Yamaguchi, M.; Kuzume, M.; Matsumiya, A.; Matsumoto, T.; Sakai, H.; Hatakeyama, T.; Nakano, H.;[eurekamag.com]
  • […] dysplasia AR Geroderma osteodysplasticum AR Idiopathic juvenile osteoporosis SP 25.[gamuts.isradiology.org]
  • […] hyperlaxity syndrome Osteoporosis-oculocutaneous hypopigmentation syndrome Osteoporosis-pseudoglioma syndrome Osteosclerosis-developmental delay-craniosynostosis syndrome Osteosclerosis-ichthyosis-premature ovarian failure syndrome Otopalatodigital syndrome[se-atlas.de]
  • Juvenile Idiopathic Osteoporosis ; 121. Bruck Syndrome ; 122. Singleton-Merten Syndrome ; 123. Geroderma osteodysplasticum ; 124. Weismann-Netter Toxopachyosteosis ; 125. Calvarial doughnut lesions with bone fragility ; 126.[amazon.de]
Joint Dislocation
  • Chondrodysplasia with congenital joint dislocations, CST3 type ; 47. Desbuquois Dysplasia ; 48. gPAPP Dysplasia ; 49. Pseudodiastrophic Dysplasia ; 50.[amazon.de]
  • Chondrodysplasia with congenital joint dislocations, CST3 type 47. Desbuquois Dysplasia 48. gPAPP Dysplasia 49. Pseudodiastrophic Dysplasia 50.[amazon.cn]
  • dislocations Congenital knee dislocation Congenital limb malformation Congenital muscular dystrophy with cerebellar involvement Congenital muscular dystrophy with intellectual disability Congenital muscular dystrophy with intellectual disability and[se-atlas.de]
Genu Valgum
  • Spondylometaphyseal dysplasias (SMD) Spondylometaphyseal dysplasia Kozlowski Type AD Spondylometaphyseal dysplasia (Sutcliffe/corner fracture Type) AD SMD with severe genu valgum (includes Schmidt and Algerian Types) AD 15.[gamuts.isradiology.org]
  • Spahr type Metaphyseal dysplasia with pancreatic insufficiency and cyclic neutropenia (Shwachmann-Diamond syndrome) Spondylometaphyseal dysplasias Spondylometaphyseal dysplasia (Sutcliffe corner fracture type) Spondylometaphyseal dysplasia with severe genu[musculoskeletalkey.com]
Kinky Hair
  • Page 351 - Menkes's kinky hair syndrome: an inherited defect in copper absorption with wide-spread effects. ‎[books.google.com]
Distractibility
  • The book outlines the biology of: bone repair with differing mechanical environments; cartilage repair at articular and physeal sites; and distraction osteogenesis.[books.google.com]
  • •Complications of the Intramedullary Skeletal Kinetic Distractor (ISKD ) in Distraction Osteogenesis. Clin Orthop Relat Res. 2014;472(12):3852-9.[m.blog.daum.net]
  • Use of distraction osteogenesis techniques in skeletal dysplasias. J Pediatr Orthop 2003;23:41-5. 13. Pandey R, White SH, Kenwright J. Callus distraction in Ollier's disease. Acta Orthop Scand 1995;66:479-80. 14.[jlimblengthrecon.org]
  • 102 used a multiaxial correction frame for distraction osteogenesis in a humerus affected by Ollier disease.[healio.com]
Clumsiness
  • Patients usually have a short stature (short limbs), with increased lumbar lordosis, barrel chest and kyphoscoliosis, genu valga or vara, facial anomalies, and may show clumsy movements [1].[egms.de]

Treatment

  • Treatments are related to extent of deformity, remodeling post-surgery and possible recurrence. This 2nd edition of Pediatric Orthopedic Deformities has been expanded to cover more regions and disorders and is being presented in 3 volumes.[books.google.com]
  • The defects were repaired using four different treatments.[google.com.gt]
  • Diagnosis and Treatment Generally, radiography tends to reveal the enchondromas. The larger lesions of this disorder reveal cartilage calcification.[mybiosource.com]
  • Indeed, enchondromas tend to be well circumscribed, where a chondrosarcomas show poor demarcation. treatment: treatment Treatment of patients with multiple enchondromatosis can be more difficult.[authorstream.com]

Prognosis

  • These patients also must be monitored indefinitely for malignant change . prognosis: prognosis The prognosis of Ollier disease is difficult to assess.[authorstream.com]
  • The rate of chondrosarcoma in Ollier's disease has been estimated at 30-50%. [ 6 ] Prognosis [ 1 ] The prognosis for Ollier's disease is difficult to assess as there is a paucity of peer-reviewed research and much of it is contradictory.[patient.info]
  • Prognosis The prognosis of Ollier disease is difficult to assess [ 1 ].[ojrd.biomedcentral.com]
  • Prognosis The prognosis is dependent on the extent and severity of the disease. Cortical erosion, pathological fracture and extension of the tumor into soft tissues can be considered as a sign of malignancy.[atlasgeneticsoncology.org]
  • Because widely distributed enchondromas may pose fewer problems than localized ones (eg, limb shortening, asymmetry), it is difficult to assess the prognosis of Ollier disease ( Table 6 ).[healio.com]

Etiology

  • Available from: Ollier's disease characterized by multiple skeletal enchondroma is a rare non-inherited disease of unknown etiology. [1] Majority of the skeletal enchondroma are present in the metaphyses and diaphyses of tubular limb bones. [1] The enchondroma[ijnm.in]
  • Etiology and pathogenesis Endochondral bone ossification is a highly regulated process, which requires the progression of undifferentiated mesenchymal cells into hypertrophic chondrocytes and the subsequent replacement of a cartilaginous matrix by mineralized[ojrd.biomedcentral.com]
  • Myers, [12] in his study of limb lengthening in skeletal dysplasia of various etiologies, described ten cases of knee stiffness out of 26 patients and out of ten cases, only one had Ollier's disease.[jlimblengthrecon.org]

Epidemiology

  • Epidemiology: Epidemiology Ollier disease is seen in both sexes without gender predilection,and usually becomes apparent by early childhood.The condition is non-hereditary and is thought to occur as a result of random and spontaneous mutations .[authorstream.com]
  • Epidemiology Ollier's disease is very rare. The estimated prevalence of Ollier's disease is 1/100,000. [ 1 ] Maffucci's syndrome is even rarer.[patient.info]
  • "Epidemiology of depression and diabetes: a systematic review". Journal of Affective Disorders. 142 Suppl: S8–21. doi : 10.1016/S0165-0327(12)70004-6. PMID 23062861. a b See JA, Kaukinen K, Makharia GK, Gibson PR, Murray JA (October 2015).[en.wikipedia.org]
  • Epidemiology The estimated prevalence of Ollier disease is 1/100,000.[ojrd.biomedcentral.com]
  • Schneble L, Murer L, Carraro A, Pape L, Kranz B, Oh J, Zirngibl M, Dello Strologo L, Buscher A, Weber LT, Awan A, Pohl M, Bald M, Printza N, Rusai K, Peruzzi L, Topaloglu R, Fichtner A, Krupka K, Koster L, Bruckner T, Schnitzler P, Hirsch HH, Tonshoff B: Epidemiology[forschdb.verwaltung.uni-freiburg.de]
Sex distribution
Age distribution

Pathophysiology

  • Monoclonal antibodies used for the treatment of cancer ( checkpoint inhibitors inhibiting PD-1 and PD-L1 ), especially nivolumab and pembrolizumab have been reported to occasionally induce autoimmune diabetes. [34] Pathophysiology [ edit ] The pathophysiology[en.wikipedia.org]
  • The modified Spranger classification system is widely used to address types of enchondromatosis, and the common subtypes are listed in Table 2 . 17 Table 2: Classification of Multiple Enchondromatosis Pathophysiology The pathogenesis of enchondromatosis[healio.com]

Prevention

  • .;, 2003: Prevention of organ allograft rejection by a specific Janus kinase 3 inhibitor Stempfle, H.U.; Werner, C.; Echtler, S.; Wehr, U.; Rambeck, W.A.; Siebert, U.; Uberfuhr, P.; Angermann, C.E.; Theisen, K.; Gärtner, R., 1999: Prevention of osteoporosis[eurekamag.com]
  • The cause of this disease is not known and hence preventive options are not known. Maffiucci’s Syndrome This is a nonhereditary disorder affecting the bones and skins as the result of benign multiple enchondromas.[mybiosource.com]
  • [ edit ] Type 1 diabetes is not currently preventable. [42] Some researchers believe it might be prevented at the latent autoimmune stage, before it starts destroying beta cells. [25] Immunosuppressive drugs [ edit ] Cyclosporine A, an immunosuppressive[en.wikipedia.org]
  • •A Modified Suture Bridge Technique to Prevent a Marginal Dog Ear Deformity Improves Structural Integrity after Rotator Cuff Repair. Am J of Sports Med. 2015;43(3):597-605.[m.blog.daum.net]
  • Prevention Despite acceptance that Ollier's disease carries a risk of malignant change there is little in the literature to quantify the risk and no agreed protocol for screening.[patient.info]

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