Symptoma

Microphthalmia with Linear Skin Defects Syndrome

MIDAS Syndrome

We present a patient with agenesis of corpus callosum, ocular abnormalities, and multiple skin defects. The cytogenetic studies of the MLS critical region (Xp22.2) were normal, but a skewed X-chromosome inactivation pattern (85:15) was observed. [ncbi.nlm.nih.gov]

Corneal leukomas and some degree of sclerocornea are usually present as well. Orbital cysts have been observed. [disorders.eyes.arizona.edu]

(NASDAQ: SNTA) announced today that interim results of the Phase 2b portion of the GALAXY program will be presented on November 28, 2012 at 12:15 p.m. [news-medical.net]

  • Progressive Mental Retardation

    Mental retardation, progressive Progressive mental retardation [ more ] 0006887 Percent of people who have these symptoms is not available through HPO Abnormality of metabolism/homeostasis Laboratory abnormality Metabolism abnormality [ more ] 0001939 [rarediseases.info.nih.gov]

  • Receding Chin

    chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Severe short stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Vitritis 0011531 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased [rarediseases.info.nih.gov]

  • Notched Incisors

    Dysmorphic ears ( b, j, and k ) as well as dental defects such as oligodontia, hypodontia, enamel hypoplasia, and notched incisors ( g ) in FDH1. The father of patient FDH11 shows mild linear skin lesions on his calf ( f ). [nature.com]

  • Hypoplastic Nails

    In addition, sparse and brittle hair, hypoplastic nails and papillomas have been described. Skeletal abnormalities usually comprise syndactyly, ectrodactyly, and brachydactyly, and in some cases osteopathia striata has been seen. [nature.com]

  • Hearing Impairment

    impairment ; Hydrocephalus ; Hyperpigmentation of the skin ; Hypertrophic cardiomyopathy ; Hypopigmented skin patches ; Hypospadias ; Intellectual disability ; Male pseudohermaphroditism ; Mandibular aplasia ; Microcephaly ; Micrognathia ; Microphthalmia [mousephenotype.org]

    impairment Deafness Hearing defect [ more ] 0000365 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Hypospadias 0000047 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ [rarediseases.info.nih.gov]

    impairment Sensorineural hearing impairment Muscle weakness Visual impairment SOURCES: MESH SCTID UMLS OMIM ORPHANET MONDO GARD DOID More info about CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2; CMT4B2 Medium match LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL [mendelian.co]

    hypertrophic or oncocytic cardiomyopathy, atrial or ventricular septal defects, arrhythmias), short stature, diaphragmatic hernia, nail dystrophy, hearing impairment, and genitourinary malformations. [ncbi.nlm.nih.gov]

  • Fear

    Arch Dermatol. 1970 Jan; 101 (1):1–11. [ PubMed ] [ Google Scholar ] Hodgson SV, Neville B, Jones RW, Fear C, Bobrow M. Two cases of X/autosome translocation in females with incontinentia pigmenti. [ncbi.nlm.nih.gov]

  • Impulsivity

    Cardiovascular examination was notable for a displaced point of maximal impulse to the right of midline and a single second heart sound; no murmurs were heard. [consultant360.com]

Bilateral cases warrant complete genetic and systemic workup. Unilateral cases are usually isolated. Doward W, Perveen R, Lloyd IC, Ridgway AE, Wilson L, Black GC. A mutation in the RIEG1 gene associated with Peters’ anomaly. [aao.org]

They provided their insights into how we can use our biological knowledge not only to improve treatment pathways, but also to maximize treatment outcomes by understanding different approaches. [ime.springerhealthcare.com]

Most patients of lung cancer had no treatment at all. Treatment options for lung cancer back then w ere v ery to xic and not very eective. [es.scribd.com]

Read more ------------- The Cost of New Drugs One of the most pressing problems in oncology today is the rising costs of cancer treatment. [iaslc.org]

Pedigree: X-linked dominant, mother affected Treatment Treatment Options: Treatment is organ-specific with repair of septal defects and diaphragmatic hernias. [disorders.eyes.arizona.edu]

Jairia Dela Cruz, 20160524042232 Reducing the dose of afatinib may lower the incidence and severity of treatment-related adverse events (AEs) without compromising therapeutic efficacy in a subset of patients with EGFR-positive non-small cell lung cancer [specialty.mims.com]

•Initial bulk and extent of N2 node involvement do not influence prognosis. •Sterilization of mediastinal LN remains the most important factor for prognosis. •Well-designed prospective clinical trials may be required. [slideshare.net]

Despite a multimodality approach consisting of concurrent chemo-radiotherapy, the prognosis remains poor. However, there is still hope. [iaslc.org]

Prognosis For anophthalmia, prosthetic eyes should be seen by a specialist two to three times per year to assess fit, mobility, and smoothness. They are usually well tolerated and have good appearance and mobility. [medical-dictionary.thefreedictionary.com]

For the rare patients who benefit from surgical excision, the long-term prognosis is unknown. [revespcardiol.org]

Prognosis MLS is lethal in males prior to birth. In females, a full life expectancy is possible if the complications are not severe and if medical treatment is followed. [encyclopedia.com]

The original reference is provided for historical interest, and review articles are included to show recent advances in etiology and treatment. [books.google.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

Adeline Jacquinet, Debra Millar and Anna Lehman, Etiologies of uterine malformations, American Journal of Medical Genetics Part A, 170, 8, (2141-2172), (2016). Rebecca S. Beroukhim and Mary Etta E. [doi.org]

Our data evidence microduplications of the ATRX gene as a likely etiology for ASD in approximately 3% of cases, thus broadening the clinical spectrum of known genetic alterations associated with the disease. [ashg.org]

Etiologic study of hypertrophic cardiomyopathy was noncontributive. At the age of 3 months, she presented ventricular fibrillation with no resumption of electric activity despite defibrillations. [revespcardiol.org]

[…] infection of graft kidney (Sassoon hospital congress 2013, Pune) EGFR mutation - an uncommon event in squamous cell carcinoma of lung (ACOS 2016, New Delhi) Profile of adenocarcinoma lung amongst Indian females (APLCC 2016, Chiang mai, Thailand) Study of epidemiological [rgcirc.org]

Respiratory epidemiology (course) 17 June – 3 July 2014 online www.ersnet.org/... Pulmonary hypertension and pulmonary vascular disease (course) 5-7 June 2014 Lausanne, Switzerland www.ersnet.org/... [apsresp.org]

“Lung cancer is the most preventable form of cancer death in the world. APLCC 2016 features tobacco control sessions prominently on the scientific agenda. Preventing lung cancer is a top public health imperative,” Dr. Thongprasert said. [iaslc.org]

Centers for Disease Control and Prevention (CDC), tobacco smoking is the top risk factor for lung cancer, with 90 percent of cases attributed to tobacco use. [ecancer.org]

Once properly dispersed in the wax/binder matrix the particles remain suspended and are prevented from re-agglomerating. [marcusoil.com]