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1,375 Possible Causes for Cataract, Pediatric Disorder, Xeroderma

  • Cockayne Syndrome

    To describe cataracts in classic and early onset Cockayne syndrome (CS).[] As with other pediatric disorders, transition to adult services is problematic, not least because adults with CS are small, and many adult services are ill-equipped to manage[] […] whose clinical presentation of cutaneous photosensitivity and central nervous system dysfunction is strongly reminiscent of the DeSanctis-Cacchione syndrome (DCS) variant of xeroderma[]

  • Cerebro-Oculo-Facio-Skeletal Syndrome Type 1

    Cerebro-oculo-facio-skeletal (COFS) syndrome is a rapidly progressive neurological disorder leading to brain atrophy with calcification, cataracts, microcornea, optic atrophy[] Cerebro-oculo-facio-skeletal syndrome (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord.[] Inherited defects in NER result in profound photosensitivity and the cancer-prone syndrome xeroderma pigmentosum (XP) or two progeroid syndromes: Cockayne and trichothiodystrophy[]

  • Rothmund Thomson Syndrome

    […] human disease Congenital poikiloderma RTS Rothmund-Thomson syndrome (disorder) ROTHMUND-THOMSON SYNDROME Poikiloderma Atrophicans and Cataract ROTHMUND-THOMSON SYNDROME; RTS[] Petty, SKELETAL MALIGNANCIES AND RELATED DISORDERS, Textbook of Pediatric Rheumatology, 10.1016/B978-1-4160-0246-8.50045-0, (728-743), (2005). Snehal G.[] The differential diagnosis should include other causes of childhood poikiloderma and other rare genodermatoses with prominent telangiectasias (including Bloom syndrome, xeroderma[]

  • Diabetes Mellitus

    Considering this, we reviewed the principles and guidelines of managing cataract in patients with diabetes.[] , The Journal of Pediatrics, 174, (146), (2016).[] Most pediatric patients with diabetes have type 1 diabetes mellitus (T1DM) and a lifetime dependence on exogenous insulin.[]

  • Ichthyosis Vulgaris

    PLATANUS OCCIDENTALIS 30 —Platanus occidentalis is prescribed for X linked ichthyosis with corneal opacity and cataract .[] The palms and soles tend to be mildly thickened as well in this semi-dominant common skin disorder. Source: Kline MW. Rudolph's Pediatrics, 23e; 2018.[] Indian Pediatr 1996;33:241-3. [ PUBMED ] 3. Martin KL. Disorders of keratinization. In: Kliegman RM, Stanton BF, St Geme JW 3 rd, Schor NF, editors.[]

  • Werner Syndrome

    Here, we report a successful management of hypermature cataract in WS.[] Trumler, Evaluation of pediatric cataracts and systemic disorders, Current Opinion in Ophthalmology, 22, 5, (365), (2011). Siwon Choi, Wei Wang, Alexandrew J.S.[] XPG incision defects result in the cancer-prone syndrome xeroderma pigmentosum, whereas truncating mutations of XPG cause the severe postnatal progeroid developmental disorder[]

  • Laurence Moon Syndrome

    Especially for Macular degeneration • Glaucoma • Stargardt’s Syndrome • Retinal Detachment • Optic Neuritis • Diabetic Retinopathy • Retinitis Pigmentosa • Optic Nerve Atrophy • Cataracts[] Pediatr Nephrol. 2012 Jan;27(1):7-15.[] […] syndrome Maternal PKU fetal effect Meckel-Gruber syndrome Melnick-Fraser syndrome Menkes kinky-hair syndrome Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma[]

  • Progeria

    […] column and metacarpal joints with short stature, beaked nose and high-pitched voice, The ocular findings include: spontaneous bilateral dislocation of spherophakic mature cataracts[] Haller, Caffey's Pediatric Diagnostic Imaging 10th ed. Mosby, 2004: 2212- 2213.[] We propose that progerin accumulation results in disruption of functions of some replication and repair factors, causing the mislocalization of XPA (xeroderma pigmentosum[]

  • Myotonic Dystrophy

    We report a family with hereditary cataract, which was initially classified as primary hereditary cataract.[] Pediatr Neurol. 1994; 11:208. [ Links ] 9. D’Angelo MG, Bresolin N. Cognitive impairment in neuromuscular disorders. Muscle Nerve. 2006; 34:16. 10.[] […] mucopolysaccharidosis, Gaucher's disease, infanitile amaurotic familial idiocy, Sandhoff disease, Lesch-Nyhan syndrome, APRT deficiency, adenosine deaminase anomalous syndrome, xeroderma[]

  • Alport Syndrome

    For example, an abnormal lens due to lenticonus or cataracts can be replaced. Genetic counseling may be recommended because the disorder is inherited.[] There are at least two factors that have brought genetic disorders into the forefront of pediatrics.[] […] syndrome Maternal PKU fetal effect Meckel-Gruber syndrome Melnick-Fraser syndrome Menkes kinky-hair syndrome Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma[]

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