Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age. [books.google.com]

However some SLE patients may present a more severe joint involvement requiring aggressive therapy. [biomedsearch.com]

Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. [diseaseinfosearch.org]

Abstract André Mégarbané, Agnès Sanders, Eliane Chouery, Valérie Delague, Myrna Medlej-Hashim and Paul-Henri Torbey The Journal of Rheumatology May 2002, 29 (5) 1084-1087; Abstract A young boy from nonconsanguineous Palestinian parents presented with [jrheum.org]

• Short Stature

  Abstract André Mégarbané, Agnès Sanders, Eliane Chouery, Valérie Delague, Myrna Medlej-Hashim and Paul-Henri Torbey The Journal of Rheumatology May 2002, 29 (5) 1084-1087; Abstract A young boy from nonconsanguineous Palestinian parents presented with short [jrheum.org]

  Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [ncbi.nlm.nih.gov]

  stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies see KBG syndrome short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome see KBG syndrome short stature-onychodysplasia see [herenciageneticayenfermedad.blogspot.com]

  stature syndrome, autosomal recessive, with intellectual disability XYLT1 Short stature, idiopathic, X-linked (ISS) SHOX del Short stature, pituitary and cerebellar defects, and small sella turcica LHX4 del Shprintzen-Goldberg craniosynostosis syndrome [uniklinik-freiburg.de]

  Ranganath P, Dalal AB .(2013) Congenital metacarpal pseudoarthrosis, cleft palate, short stature, advanced bone age, and genu valgum: a new syndrome or a variant of Devriendt syndrome? Clinical Dysmorphology 22(2): 73-75. [cdfd.org.in]

• Hunting

  ISSN 0006-4971 Girisha, KM (2016) Hunting for mutations in Indian patients with hunter syndrome. Indian Pediatrics, 53 (2). p. 117. [eprints.manipal.edu]

• Hemophilia A

  Shubha Phadke, Rheumatic Manifestations of Genetic Disorders and Hemophilia, Pediatric Rheumatology, 10.1007/978-981-10-1750-6_47, (595-609), (2016). [doi.org]

• Gingival Overgrowth

  The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. [ncbi.nlm.nih.gov]

• Malocclusion

  Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. [ncbi.nlm.nih.gov]

• Osteopenia

  Most people with MONA develop low bone mineral density (osteopenia) and thinning of the bones (osteoporosis) throughout the skeleton. These abnormalities make bones brittle and more prone to fracture. [ncbi.nlm.nih.gov]

  Research Bone X-Ray (Radiography) Array Calcium Test American Association for Clinical Chemistry Array ALP – blood test ALP isoenzyme test Blount’s disease Bone lesion biopsy Bone pain or tenderness Bone tumor Bowlegs Fibrous dysplasia Osteomalacia Osteopenia [chcrr.org]

• Corneal Opacity

  Other features of MONA can include clouding of the clear front covering of the eye (corneal opacity), excess hair growth (hypertrichosis), overgrowth of the gums, heart abnormalities, and distinctive facial features that are described as "coarse." [ncbi.nlm.nih.gov]

  Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. [malacards.org]

  Winchester syndrome: subcutaneous nodules are characteristically absent, severe osteolysis in the hands and feet, and various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG coarse face Main biochemical alterations [iofbonehealth.org]

• Hypertrichosis

  Other features of MONA can include clouding of the clear front covering of the eye (corneal opacity), excess hair growth (hypertrichosis), overgrowth of the gums, heart abnormalities, and distinctive facial features that are described as "coarse." [ncbi.nlm.nih.gov]

  Additional features include coarse face, corneal opacities, patches of thickened, hyperpigmented skin, hypertrichosis and gum hypertrophy. [malacards.org]

  Familial partial lipodystrophy, Dunnigan type Refsum disease Dentatorubral pallidoluysian atrophy Multicentric osteolysis-nodulosis-arthropathy spectrum Faisalabad histiocytosis Familial sinus histiocytosis with massive lymphadenopathy H syndrome Pigmented hypertrichosis [doczz.fr]

  Newsletter of Genetics Chapter of Indian Academy of Pediatrics, Vol 2, Issue 1 (Jan-Mar 2009) Hypertrichosis, hyperkeratosis and mental retardation syndrome: further delineation of phenotype.Link. Dalal A, Mehrotra RN. [cdfd.org.in]

• Hirsutism

  Coarse face and body hirsutism are additional features. Source: Online Mendelian Inheritance in Man [diseaseinfosearch.org]

  Coarse face and body hirsutism are additional features. (259600) MalaCards based summary : Multicentric Osteolysis, Nodulosis, and Arthropathy, also known as torg-winchester syndrome, is related to winchester syndrome and multicentric carpotarsal osteolysis [malacards.org]

  Hirsutism MedGen UID: 42461 • Concept ID: C0019572 • Finding A condition observed in WOMEN and CHILDREN when there is excess coarse body hair of an adult male distribution pattern, such as facial and chest areas. [ncbi.nlm.nih.gov]

• Hyperpigmentation

  Other cutaneous manifestations include hyperpigmentation and thickening. Serpiginous hyperpigmented cutaneous lesions are present in a few individuals ( Figures 3C and 3D ) [ Zankl et al 2005, Azzollini et al 2014, Bhavani et al 2016 ]. [ncbi.nlm.nih.gov]

• Frontal Bossing

  Affiliated tissues include bone and skin, and related phenotypes are hypertelorism and frontal bossing Genetics Home Reference : 26 Multicentric osteolysis, nodulosis, and arthropathy (MONA) describes a rare inherited disease characterized by a loss of [malacards.org]

  Frontal bossing MedGen UID: 67453 • Concept ID: C0221354 • Congenital Abnormality A skeletal deformity characterized by an unusually prominent forehead. Causes include acromegaly, Hurler syndrome, Silver-Russell syndrome, and thalassemia major. [ncbi.nlm.nih.gov]

Serologic workup revealed positive rheumatoid factor (RF) and anti-cyclic citrullinated protein (anti-CCP) antibodies. [biomedsearch.com]

Treatment options are limited. The investigators reviewed the outcome of patients affected with MONA and treated with intravenous bisphosphonates in the clinical Center. [clinicaltrials.gov]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [resourcerepository.org]

It is also used for the treatment and prevention of BACTERIAL VAGINOSIS. [bioportfolio.com]

Given that the treatment options for conditions such as IMO are limited, we conclude that bisphosphonate therapy could be considered for treatment of IMO as it appears safe and has potential benefits as described above. [ped-rheum.biomedcentral.com]

Using standardized diagnostic ... 45 Infliximab-induced psoriasis in treatment of Crohn's disease-associated ankylosing spondylitis: case report and ... [biomedsearch.com]

Prognosis Azzollini J, Rovina D, Gervasini C, Parenti I, Fratoni A, Cubellis MV, Cerri A, Pietrogrande L, Larizza L J Hum Genet 2014 Nov;59(11):631-7. Epub 2014 Oct 2 doi: 10.1038/jhg.2014.84. PMID: 25273674 Saudi Med J 2005 Jan;26(1):24-30. [ncbi.nlm.nih.gov]

In: Treatment & Prognosis in Pediatrics. Jaypee Brothers, New Delhi, pp. 402-403. Girisha, KM Gaucher Disease. In: Treatment & Prognosis in Pediatrics. Jaypee Brothers, New Delhi, pp. 404-405. This list was generated on Mon May 13 06:36:38 2019 UTC . [eprints.manipal.edu]

A functional role for KLF6-SV1 in lung adenocarcinoma prognosis and chemotherapy response. Cancer Research. 68: 965-70. [academictree.org]

[…] abstract structured in up to 10 sections: Definition of the disease – Epidemiology – Clinical description – Aetiology – Diagnostic methods – Differential diagnosis - Genetic counseling (if relevant) – Antenatal diagnosis (if relevant) – Management – Prognosis [doczz.fr]

Electronic address: - - 2014 Infectious arthritis is a medical emergency whose prognosis, in terms of general morbidity and the final functionality of the joint, depends on rapid diagnosis and treatment. [biomedsearch.com]

- - 2014 Dysplasia epiphysealis hemimelica is a rare developmental disorder with unknown etiology affecting epiphysis mostly in childhood. [biomedsearch.com]

"Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin", JOURNAL OF CLINICAL INVESTIGATION, vol.126, pp.762-778, 2016 Sahin S., Hiort O., Thiele S., Evliyaoğlu O., Tüysüz B., "Longitudinal Observation in a Turkish Girl [aves.istanbul.edu.tr]

Epidemiology rare Pathology destruction & resorption of affected bones Genetics autosomal recessive associated with defects in MMP2 Clinical-manifestations osteolysis with multicentric involvement carpal & tarsal resorption crippling arthritic changes [anvita.info]

In some cases, the experts are contacted to answer a specific question (on nomenclature, on genetics or on epidemiological data) in order to update the Orphanet content. [doczz.fr]

Relevant External Links for MMP14 Genetic Association Database (GAD) MMP14 Human Genome Epidemiology (HuGE) Navigator MMP14 Atlas of Genetics and Cytogenetics in Oncology and Haematology: MMP14 No data available for Genatlas for MMP14 Gene Regulation [genecards.org]

As the pathophysiology is unknown, differential diagnoses of IMO must include conditions which cause avascular necrosis. [ped-rheum.biomedcentral.com]

It is also used for the treatment and prevention of BACTERIAL VAGINOSIS. [bioportfolio.com]

Ankle contracture MedGen UID: 332440 • Concept ID: C1837407 • Finding A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle. [ncbi.nlm.nih.gov]

To have strong bones when you are young, and to prevent bone loss when you are older, you need to get enough calcium, vitamin D, and exercise. You should also avoid smoking and drinking too much alcohol. Bone diseases can make bones easy to break. [chcrr.org]

International Journal of Preventive Medicine, 7 (1). pp. 81-83. [cdfd.sciencecentral.in]

We propose two contracts to prevent conflicts regarding authorship; both are freely available for use without pay but with reference to the original source. [worldwidescience.org]