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Brachyolmia

Autosomal Dominant Brachyolmia


Presentation

  • Molecular investigations in this South African family are currently underway but at present the basis defect of brachyolmia remains unknown.[ncbi.nlm.nih.gov]
  • We report a patient with brachyolmia and present the clinical and radiological findings. A 15-year-old boy presented to our Outpatient Department because of his short stature.[ncbi.nlm.nih.gov]
  • Despite normal birth weight and length, the platyspondyly is present at infancy, but clinically the condition may not be noticeable until late childhood or early puberty, when stunted growth becomes apparent.[ncbi.nlm.nih.gov]
  • She presented with short-trunked dwarfism, hypolordosis of the lower spine and radiological features of the disease.[ncbi.nlm.nih.gov]
  • Besides these four types there are individual cases that can not be classified at present. the appropriate genetic counseling can be given. There is no specific treatment for any of the types of brachyolmia.[streetdirectory.com]
Corneal Opacity
  • Toledo type--radiographically similar to Hobaek type but also associated with corneal opacities and precocious ossification of costal cartilage. It is uncertain as to whether this represents variability or heterogeneity. 2.[ncbi.nlm.nih.gov]
  • The Toledo form is distinguished by the presence of corneal opacities and precocious calcification of the costal cartilage. Brachyolmia, recessive Hobaek type: A rare bone disorder characterized by a short trunk dwarfism.[checkorphan.org]
  • The Toledo type: probably identical to the Hobaek type with regard to the skeletal and vertebral changes, but patients also have abnormal excretion of glycosaminoglycans and peripheral punctate corneal opacities.[streetdirectory.com]
  • The Toledo form is distinguished by the presence of corneal opacities and precocious calcification of the costal cartilage.[diseaseinfosearch.org]
Platyspondyly
  • Despite normal birth weight and length, the platyspondyly is present at infancy, but clinically the condition may not be noticeable until late childhood or early puberty, when stunted growth becomes apparent.[ncbi.nlm.nih.gov]
  • Brachyolmia refers to a form of skeletal dysplasia characterized by general platyspondyly without significant epiphyseal, metaphyseal, or diaphyseal changes in the long bones.[ncbi.nlm.nih.gov]
  • In infancy, radiographs showed moderate platyspondyly and dumbbell deformity of the tubular bones. Gradually, the platyspondyly became more pronounced, while the bowing of the legs and dumbbell deformities of the tubular bones diminished with age.[ncbi.nlm.nih.gov]
  • Brachyolmia is a heterogeneous skeletal dysplasia characterized by generalized platyspondyly without significant long-bone abnormalities.[ncbi.nlm.nih.gov]
  • Brachyolmia refers to a form of skeletal dysplasia characterized by general platyspondyly without significant epiphyseal, metaphyseal or diaphyseal changes in long bones.[ncbi.nlm.nih.gov]
Coxa Valga
  • Bilateral coxa valga and mild acetabular irregularities were noticed on pelvic radiographies. Levels of chondroitin and heparan sulphate as well as the glycosaminoglycan/creatinine ratio were elevated in the 24-hour urine specimen.[ncbi.nlm.nih.gov]
  • valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP3 gene on chromosome 11q13.[zfin.org]

Treatment

  • 200 9 Ankylosing Spondylitis C Treatment and Assessment 209 10 Reactive and Enteropathic Arthritis 217 11 Osteoarthritis A Clinical Features 224 11 Osteoarthritis B Pathology and Pathogenesis 229 11 Osteoarthritis C Treatment 235 12 Gout A Clinical Features[books.google.com]
  • Management and treatment No specific treatment is currently available for this disease. Prognosis The prognosis for patients with brachyolmia is generally very good.[orpha.net]
  • Although there is no specific treatment for any of the brachyolmias, our patient is considering decompressive spinal surgery for palliation of his symptoms.[theassr.org]
  • , and in some cases, due to treatment also.[dovemed.com]
  • Management and treatment No specific treatment is currently available for this disease. Prognosis The prognosis for patients with brachyolmia is generally very good. Last updated: 3/19/2015[rarediseases.info.nih.gov]

Prognosis

  • Prognosis The prognosis for patients with brachyolmia is generally very good. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • (Outcomes/Resolutions) The prognosis of Brachyolmia Type 3 is dependent upon the severity of the signs and symptoms and associated complications, if any Individuals with mild conditions have better prognosis than those with severe symptoms and complications[dovemed.com]
  • Prognosis The prognosis for patients with brachyolmia is generally very good. Last updated: 3/19/2015[rarediseases.info.nih.gov]

Etiology

  • As a likely etiology, a disturbance in chondroitin sulfate synthesis is suggested.[link.springer.com]
  • Etiology A number of different mutations in the PAPSS2 gene (10q23.2-q23.3) have been reported in affected patients. PAPPS2 encodes PAPS (3'-phosphoadenosine 5'-phosphosulfate) synthase 2.[orpha.net]
  • Etiology Mutations in the PAPSS2 gene (10q24) have been found in patients with AR brachyolmia, Hobaek/Toledo type, and in the TRPV4 gene (12q24.1) in patients with AD brachyolmia. Precise pathogenesis is not well understood.[orpha.net]

Epidemiology

  • Musculoskeletal Signs and Symptoms E The Fibromyalgia Syndrome 87 4 Molecular and Cellular Basis of Immunity and Immunological Diseases 94 5 Genetics and Disease 108 6 Rheumatoid Arthritis A Clinical and Laboratory Manifestations 114 6 Rheumatoid Arthritis B Epidemiology[books.google.com]
  • The chapters review associated epidemiology, clinical presentation and evolution, treatment, and differential diagnoses, with in-depht analysis of imaging characteristics.[books.google.com]
  • Synonym(s): - Brachyolmia type 3 Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
  • Summary Epidemiology The precise prevalence of this form of brachyolmia is not known. About 20 cases have been reported. Cases have been reported in various ethnic groups (Japan, Korea, Turkey), sometimes related to consanguineous unions.[orpha.net]
  • Summary Epidemiology The prevalence of brachyolmia is not known, but the disorder is probably under-recognized. Fewer than 100 cases have been reported to date. Cases have been reported in various ethnic groups.[orpha.net]
Sex distribution
Age distribution

Pathophysiology

  • Molecular and Systemic Pathophysiology Qualitative abnormal excretion of glycosaminoglycans is described in some patients. As a likely etiology, a disturbance in chondroitin sulfate synthesis is suggested.[link.springer.com]

Prevention

  • Brachyolmia Type 3 may not be preventable, since it is a genetic disorder.[dovemed.com]
  • Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ][icdlist.com]

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