This can present with rapidly progressive acral and facial sclerosis in the absence of systemic disease. [vgrd.org]

Moore-Federman syndrome ORPHA:2569 Synonym(s): Dwarfism-stiff joint-ocular abnormalities syndrome Prevalence: - Inheritance: - Age of onset: - ICD-10: - OMIM: 127200 UMLS: C0265349 MeSH: - GARD: 1989 MedDRA: - The documents contained in this web site are presented [orpha.net]

Elsevier Health Sciences, ٣١‏/٠١‏/٢٠١٤ - 992 من الصفحات Acclaimed for its unsurpassed readability and manageable scope, Ashcraft’s Pediatric Surgery presents authoritative, practical guidance on treating the entire range of general surgical and urological [books.google.com]

We also present a brief review of the literature reports of this condition. Case Report A 45 year-old, short-statured woman (height 146 cm) of normal intelligence, presented to us with features of tightening of the skin since the age of 12 years. [ijdvl.com]

The Buschke-Ollendorff syndrome presenting as familial elastic tissue naevi. Br J Dermatol. 2001;144:890-893. [derm101.com]

• Hemophilia A

  […] ossificans progressiva • Flynn-Aird syndrome • Freeman-Sheldon syndrome • Frontometaphyseal dysplasia • Geleophysic dysplasia • German syndrome • GM1 gangliosidosis • Golden-Lakim syndrome • Goodman camptodactyly syndrome • Gordon syndrome • Hecht syndrome • Hemophilia [rrnursingschool.biz]

  The etiologic factors of carpal tunnel syndrome include trauma (especially distal radius epiphysealis), overuse, genetic or metabolic disorders, space-occupying lesions in the carpal tunnel, hemophilia, congenital anomalies, adverse effect of growth hormone [healio.com]

  Treatment Center James L Harper, MD is a member of the following medical societies: American Society of Pediatric Hematology/Oncology, American Federation for Clinical Research, Council on Medical Student Education in Pediatrics, Hemophilia and Thrombosis [emedicine.staging.medscape.com]

• Short Stature

  Disproportionate short-limb short stature MedGen UID: 342370 •Concept ID: C1849937 • Finding A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. [ncbi.nlm.nih.gov]

  Herein, we report the case of a 45 year-old lady with short stature, thickening of the skin, stiffness of the joints, typical facies, iridodonesis and cataract since the age of 12 years. She had short digits and no family history of similar illness. [semanticscholar.org]

  In 1989, Winter et al. pointed out the similarity between autosomal dominant MFS and AMD reported by Maroteaux in 1986. [2] The main features of AMD are short stature, short hands and feet and a characteristic facial appearance. [ijdvl.com]

• Whipple Disease

  Crohn's Disease, Enteropathic arthritis, Hemarthrosis, Pancreatic carcinoma, Pancreatitis, ulcerative colitis, Whipple’s disease, Wilson disease Genetic Alpha-L-iduronidase deficiency (Hurler-Scheie syndrome), [Alpha-L-iduronidase deficiency (Scheie [wikidoc.org]

  Blau syndrome Alkaptonuria Palindromic rheumatism Propylthiouracil O'nyong-nyong fever Morphoea West Nile fever Bismuth Synovial chondromatosis Whipple's disease Systemic sclerosis Takayasu's arteritis Fluorosis Ross River virus Farber's disease Methimazole [webhealthnetwork.com]

• Swelling

  Flow cytometry may be used to examine markers on the cell surface or inside the lymphocytes. [46] Additional tests such as computed tomography (CT or CAT) scan may be used to evaluate the chest, abdomen, and pelvis, particularly swelling of the lymph [en.wikipedia.org]

• Hypertension

  Syphilis 396 Tuberculosis 402 8O HIV Infection 408 References 416 Nephrology 419 AcidBase Disorders 421 Calcium MetabolismHypercalcemia 435 Calcium MetabolismHypocalcemia 439 Dyslipidemia 48 Hypertension 53 Congestive Heart Failure 67 Dilated Cardiomyopathy [books.google.de]

  Four of 11 patients had hypertension. All were between 16 and 20 years old. This feature is possibly not present in younger children. Blood pressure had to be regularly measured in patients with Myhre syndrome. [jmg.bmj.com]

  Logistic regression analysis showed that hypertension (p = 0.026, OR: 0.380, 95% CI: 0.163-0.890) was a significant predictor of poor CS. [worldwidescience.org]

  […] receiving HAART than in age-matched control patients and that protease inhibitors have been found to have insulin resistance the presence of other traditional risk factors such as smoking even in the absence of overt diabetes, which also contributes to and hypertension [slideshare.net]

• Iridodonesis

  Herein, we report the case of a 45 year-old lady with short stature, thickening of the skin, stiffness of the joints, typical facies, iridodonesis and cataract since the age of 12 years. She had short digits and no family history of similar illness. [ncbi.nlm.nih.gov]

  Evaluation of the eyes showed iridodonesis, posterior and anterior subcapsular cataract and ectopia lentis. The patient was given reassurance regarding the disorder and symptomatic management was given. [bioline.org.br]

• Brachydactyly

  The cases of Rousseau and Hermann [19491 lacked brachydactyly and were challenged. [dev.docslide.net]

  Weill-Marchesani Syndrome: Rare, genetic disorder characterized by short stature, brachycephaly, hand defects, including brachydactyly, and unusually small, round lenses of the eyes (spherophakia) prone to ectopia lentis. [accessanesthesiology.mhmedical.com]

  He had short hands with brachydactyly and short feet with slight II-III syndactyly. Osteotendinous reflexes were very weak. [jmg.bmj.com]

  Autositic monster Bannayan syndrome Bardet-Biedl syndrome Beckwith-Wiedemann syndrome Biemond's syndrome Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency Borjeson-Forssman-Lehmann syndrome Brachydactyly [emedcodes.com]

• Joint Stiffness

  Joint stiffness MedGen UID: 56403 •Concept ID: C0162298 • Sign or Symptom Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. [ncbi.nlm.nih.gov]

  Journal Article•DOI• TL;DR: A syndrome of progressive joint stiffness, glaucoma, and lens dislocation observed in three generations is reported and the acronym GEMSS syndrome is coined to distinguish this dominant Weill-Marchesani-like syndrome from the [typeset.io]

  Her joints were stiff resulting in difficulty in walking and performing day-to-day activities. There was no history of dysphagia, exertional dyspnea, ′heart burn′ or Raynaud′s phenomenon. [ijdvl.com]

  Am J Med Genet 24:447–459 PubMed Google Scholar Moore WT, Federman DD (1965) Familial dwarfism and “stiff joints”. [link.springer.com]

• Severe Short Stature

  Severe short stature MedGen UID: 3931 •Concept ID: C0013336 • Congenital Abnormality A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. [ncbi.nlm.nih.gov]

  Top matches: Low match BRACHYOLMIA TYPE 3; BCYM3 Autosomal dominant brachyolmia is a relatively severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis [mendelian.co]

• Kidney Failure

  Complications such as hyperviscosity syndrome, symptomatic sensorimotor peripheral neuropathy, systemic amyloidosis, kidney failure, or symptomatic cryoglobulinemia were also suggested as indications for therapy. [59] Treatment includes the monoclonal [en.wikipedia.org]

Multidetector computed tomography angiography in clinically suspected hyperacute ischemic stroke in the anterior circulation : an etiological workup in a cohort of Brazilian patients Directory of Open Access Journals (Sweden) Felipe Torres Pacheco 2015 [worldwidescience.org]

^ a b Waldenstrom Macroglobulinemia~workup at eMedicine ^ a b National Cancer Institute. Waldenström Macroglobulinemia: Questions and Answers. [en.wikipedia.org]

• Nephrolithiasis

  HIGHLY ACTIVE ANTIVIRAL THERAPY Table 6—Protease Inhibitors Nucleoside Reverse Transcriptase Inhibitors Agent Toxicity Long-term exposure to antiretroviral agents has not only improved survival but also introduced a variety of significant tox- Indinavir Nephrolithiasis [slideshare.net]

Treatment Centers Edit Please add treatment centers available. Include contacts. Link any mentions you make to the online source if available. [wikicure.wikia.com]

There are not many controlled trials regarding treatment of such conditions but based on clinical experience and whatever is best available in literature, we selected the treatment options. [vgrd.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Standard Therapies Treatment The treatment of Acromicric Dysplasia is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]

Babies with birth defects often need special care and treatments. The treatments may include surgery, medicines, assistive devices, and therapies. Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] [icdlist.com]

But in our case, the histopathological findings were consistent with scleroderma, suggesting pseudoscleroderma. [5] The prognosis and life expectancy are usually unaltered, as in our case. [ijdvl.com]

CREB overexpression was also associated with a worse prognosis in CREB overexpressing AML patients (2,3). The mechanism of CREB overexpression in leukemia was investigated. [research.unipd.it]

Skin biopsy would have given us lot of answers Absolute absence of systemic manifestations goes against literature Regular follow up didn’t indicate towards progression of disease, good prognosis Fixed treatment protocols can be modified in few selected [vgrd.org]

The prognosis of acromicric dysplasia is better than that of geleophysic dysplasia. 2 Carpal tunnel syndrome accompanying acromicric dysplasia has been described by Faivre et al, 2 who reported the largest number of patients (22) with acromicric dysplasia [healio.com]

*, therapy Hemorrhage / etiology*, radiography, therapy Humans Immunosuppressive Agents / therapeutic use Lung Diseases / etiology*, radiography, therapy Male Plasmapheresis Renal Dialysis Respiration, Artificial Treatment Outcome Chemical Reg. [biomedsearch.com]

Acromicric dysplasia should be considered in the etiology of childhood carpal tunnel syndrome. The surgical outcome of carpal tunnel syndrome is good with early diagnosis and treatment. [healio.com]

Objective: The study aimed to evaluate the etiology, clinical characteristics, outcome, and predictors of outcome in a cohort of patients with IPCS in Northwestern Nigeria. [worldwidescience.org]

Two XX males in one family and additional observations bearing on the etiology of XX males. Clin Genet 1977 ;11: 91 – 106. Google Scholar | ISI 157. Ramos, ES, Moreira-Filho, CA, Vicente, YA. [journals.sagepub.com]

Deivanayagam N, Nedunchelian K, Vasudevan S, Ramamoorthy N,Rathnam SR, Mala N, Ashok TP, Ahmed SS: Etiological agents ofacute poliomyelitis in south India. Indian J Pediatr 1994,61:257-262.14. [dokument.tips]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.com]

Verboon MA, Krediet TG, Van Loon AM, Kaan J, Galama JMD, Ger-ards LG, Fleer A: Epidemiological survey of neonatal non-polioenterovirus infection in the Netherlands. J Med Virol 2002,66:241-245.34. [dokument.tips]

[…] syndrome. [12, 13, 14, 15, 16] These patients have lower performance in most cognitive domains than age-matched controls. [14] Although they do not have gross brain abnormalities, they are frequently found to have significantly reduced brain volumes. [17] Epidemiology [emedicine.medscape.com]

[…] survival rates are 12, 8, and 3.5 years. [76] The IPSSWM has been shown to be reliable. [77] It is also applicable to patients on a rituximab-based treatment regimen. [75] An additional predictive factor is elevated serum lactate dehydrogenase (LDH). [78] Epidemiology [en.wikipedia.org]

Studies to understand the pathophysiology of bone marrow failure are currently underway. [emedicine.medscape.com]

Pediatric Gastrointestinal Disease: Pathophysiology, Diagnosis, Management. St. Louis, MO: Mosby; 1996. 1488-92. Szuts P, Katona Z, Ilyes M, et al. Correction of defective chemotaxis with thiamine in Shwachman-Diamond syndrome. [emedicine.staging.medscape.com]

In patients with skeletal dysplasia, the pathophysiologic mechanism underlying carpal tunnel syndrome may be narrowing and shallowing of the carpal tunnel in addition to thickening of the transverse carpal ligament. 4 Conclusion In the presence of skeletal [healio.com]

[…] histone deacetylases and histone-modifying genes are de-regulated. [38] Bone marrow tumour cells express the following antigen targets CD20 (98.3%), CD22 (88.3%), CD40 (83.3%), CD52 (77.4%), IgM (83.3%), MUC1 core protein (57.8%), and 1D10 (50%). [39] Pathophysiology [en.wikipedia.org]

Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ] [icdlist.com]

A certification by the Board of Psychiatry & Neurology; practitioners are skilled in the prevention, diagnosis and treatment of mental, addictive and emotional disorders. [medicinenet.com]

Summary: recommendations for preventing trans- Lancet 1:1111, 1988 Wkly Rep 45:468, 1996 mission of infection with human T-lymphotropic 69. [slideshare.net]

Consistent with these considerations, previous studies documented that the Arg496Ser change does not prevent heterotrimer formation, although it was found to partially impair the transcriptional activity of the complex itself [Chacko et al., 2001]. [docksci.com]

Centers for Disease Control and Prevention,Atlanta, Georgia, USA 2005.29. Cherry JD: Enteroviruses. In Infections in the fetus and newborn infantEdited by: Remington JS, Klein JO. Philadelphia: WB Saunders. P;1995:406-446. 30. [dokument.tips]