We speculate the important role of Notch signaling in this complex phenotypic presentation of Coats plus syndrome and dextrocardia. [ncbi.nlm.nih.gov]

Only 28 cases were detailed concerning the precise clinical presentation in the literature. [clinicaltrials.gov]

At 23 yrs she presented with a height of 117.7 cm (-7.0 SDS), progeroid appearance, elevated upper/lower segment ratio (1.2), BMI -2.3 SDS, head circumference -2.0 SDS, breast stage 2, thin skin and hair, microdontia/oligodontia, high palate, right thumb [abstracts.eurospe.org]

Additionally, we present two previously unreported individuals from Ireland and Switzerland with the identical disorder which we designate Coats' plus. [research.manchester.ac.uk]

• Short Stature

  We conclude that the CRMCC-associated bone disease is characterized by low BMD and pathological fractures with delayed healing, metaphyseal changes, and short stature pre- and postnatally. LRP5 is not a disease-causing gene in CRMCC. [ncbi.nlm.nih.gov]

  stature, and intellectual disabilities) 759.89 Rud's (mental deficiency, epilepsy, and infantilism) 759.89 Russell (-Silver) (congenital hemihypertrophy and short stature) 759.89 Seckel's 759.89 sick Silver's (congenital hemihypertrophy and short stature [icd9data.com]

  We conclude that the CRMCC‐associated bone disease is characterized by low BMD and pathological fractures with delayed healing, metaphyseal changes, and short stature pre‐ and postnatally. [doi.org]

  This case also illustrates the importance of WES in the diagnosis of children with extreme short stature. [abstracts.eurospe.org]

  Get Update Overview Peters plus syndrome is a genetic condition characterized by abnormalities of the front part of the eye called the anterior chamber, short stature, cleft lip with or without cleft palate, and distinctive facial features. [diseaseinfosearch.org]

• Poor Growth

  Additional features were skeletal and hematologic abnormalities, intestinal bleeding, and poor growth. Neuropathologic examination showed extensive calcinosis and abnormal small vessels with thickened, hyalinized wall and reduced lumen. [ncbi.nlm.nih.gov]

• Gastropathy

  In the current case, whilst the histological diagnosis was consistent with GAVE, it was noted that the changes would also fit with portal gastropathy. [doi.org]

• Microdontia

  At 23 yrs she presented with a height of 117.7 cm (-7.0 SDS), progeroid appearance, elevated upper/lower segment ratio (1.2), BMI -2.3 SDS, head circumference -2.0 SDS, breast stage 2, thin skin and hair, microdontia/oligodontia, high palate, right thumb [abstracts.eurospe.org]

  Russell-Silver syndrome: microdontia and other 38. pertinent oral findings. ASDC J Dent Child. 1987 May-Jun;54(3):201-4. PubMed PMID: 3473100. 420: Jarczok K, Krzemień S, Kubińska E. [de.slideshare.net]

• Thumb Hypoplasia

  […] agenesis, left thumb hypoplasia and arthrogryposis. [abstracts.eurospe.org]

• Sparse Hair

  In the latter, a progressive formation of parenchymal brain cysts is a special feature, whereas Coats plus is characterized by intrauterine growth retardation, bilateral retinal telangiectasias and exudations (Coats disease), sparse hair, and dysplastic [ncbi.nlm.nih.gov]

  AB - In 1988 we reported two sisters with bilateral Coats' disease, sparse hair, dystrophic nails, and primeval splashes of intracranial calcification. [research.manchester.ac.uk]

  hair, dystrophic nails, and primeval splashes of intracranial calcification. [archive-ouverte.unige.ch]

  Some individuals have sparse hair, abnormal pigmentation of the skin, and dysplastic nails as well. Some extraretinal features are also found in patients with dyskeratosis congenita ( 127550 ), and in Labrune syndrome ( 614561 ). [disorders.eyes.arizona.edu]

• Thin Skin

  At 23 yrs she presented with a height of 117.7 cm (-7.0 SDS), progeroid appearance, elevated upper/lower segment ratio (1.2), BMI -2.3 SDS, head circumference -2.0 SDS, breast stage 2, thin skin and hair, microdontia/oligodontia, high palate, right thumb [abstracts.eurospe.org]

• Cerebral Calcification

  Extensive cerebral calcifications and leukoencephalopathy have been reported in two rare disorders Coats plus and leukoencephalopathy with calcifications and cysts. [ncbi.nlm.nih.gov]

  Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument. [research.manchester.ac.uk]

  At the age of 37 years, cerebral calcifications were detected, but she exhibited no cognitive or motor problems. [pubfacts.com]

  Corboy, Adult Cases of Leukoencephalopathy, Cerebral Calcifications, and Cysts: Expanding the Spectrum of the Disorder, Journal of Neuropathology & Experimental Neurology, 68, 4, (432), (2009). [doi.org]

  Abstract Background: Extensive cerebral calcifications and leukoencephalopathy have been reported in two rare disorders Coats plus and leukoencephalopathy with calcifications and cysts. [neurology.org]

Despite numerous workups, no specific etiology was identified for the GI bleeding. Conclusion: Previous reports have not investigated cause of GI bleeding, since it is extremely rare in the literature. [miami.pure.elsevier.com]

These patients are often family members of a patient with advanced disease, who are identified during the screening workup for suspected FEVR. [reviewofophthalmology.com]

Extensive workup of the patient was undertaken. It included a muscle biopsy for suspected mitochondrial disorder. [academic.oup.com]

We characterized the patients' phenotype, recapitulated it in a zebrafish model and rescued cellular and clinical aspects by the ectopic expression of wild-type STN1 or by thalidomide treatment. [mdanderson.elsevierpure.com]

Treatment Treatment Options: No treatment for the general condition has been reported. Specific treatment for the retinal vascular and brain lesions might be of benefit. [disorders.eyes.arizona.edu]

Diagnosis - Coats plus syndrome Prognosis - Coats plus syndrome Treatment - Coats plus syndrome Resources - Coats plus syndrome Not supplied. [checkorphan.org]

Diagnosis - Coats plus syndrome Prognosis - Coats plus syndrome Treatment - Coats plus syndrome Resources - Coats plus syndrome Not supplied. [checkorphan.org]

Prognosis The prognosis depends on the extent of the disease with milder, older presenting cases, having a better prognosis, of even spontaneous regression, whereas children under the age of three have a poorer prognosis. [eyewiki.aao.org]

Such deposits have high concentrations of protein, cholesterol, hemosiderin-laden macrophages, and RPE cells with fibrous metaplasia. 16,17 This can lead to subfoveal fibrotic nodules with a particularly poor prognosis. [reviewofophthalmology.com]

[…] syndrome is a group of heterogeneous degenerative neurological disorders, which differ from the classical idiopathic Parkinson's disease in certain associated clinical features, poor response to levodopa, distinctive pathological characteristics and poor prognosis [ncbi.nlm.nih.gov]

The etiology of renal failure was not discovered, and the patient was being worked up for a kidney transplant. The patient required admission after deterioration of nutritional status with a BMI of 14.3. [miami.pure.elsevier.com]

Its precise genetic etiology was discovered in 2012: autosomal recessive mutation of the CTC1 gene. Publications about this syndrome are very few, and consist only of case reports, or small series of cases. [clinicaltrials.gov]

These characteristics help to clearly identify ROP as a causative etiology. The classic finding in FEVR is peripheral retinal capillary nonperfusion. [reviewofophthalmology.com]

In conclusion, the etiology of LCC remains unknown. In spite of relatively characteristic findings in imaging and histopathological examination, there is no uniformity in the clinical findings noted in the published articles. [scielo.br]

Based on histopathologic findings, some authors believe that cerebral microangiopathy is the possible etiology of LCC [ 6, 12 ]. [link.springer.com]

"A Population-Based Study of Coats Disease in the United Kingdom I: Epidemiology and Clinical Features at Diagnosis." Eye 24 Dec. 2010: 1797-1801. [medicinenet.com]

Epidemiology Brown’s syndrome is not uncommon, accounting for 1 of every 450 cases of congenital strabismus. It affects either eye or either sex equally and is bilateral in 10% (2, 7, 8). [neuroophthalmology.ca]

[…] pseudoaneurysm in a child (caused by a hydatid cyst ) Risk factors are similar for almost all lung cancers and include the following: Prolonged asbestos exposure Exposure to industrial elements (eg, gold, nickel) Tobacco smoking Secondary smoke exposure Epidemiology [emedicine.medscape.com]

Clinical aspects Epidemiology and clinical manifestations DC is a rare disease with an estimated annual incidence of 9, 10 Genotype–phenotype correlations are complex due to several factors, including a variety of underlying hypomorphic gene mutations [dovepress.com]

Nathan and Oski’s is the only comprehensive product on the market that relates pathophysiology in such depth to hematologic and oncologic diseases affecting children. [books.google.com]

It is caused by compound heterozygous mutations in the conserved telomere maintenance component 1 (CTC1) gene, but its exact pathophysiology is still not well understood. [checkorphan.org]

This review summarizes the pathophysiology underlying TBDs, associated clinical features, management recommendations and therapeutic options. [tandfonline.com]

Symptoms - Coats plus syndrome Causes - Coats plus syndrome Prevention - Coats plus syndrome Not supplied. Diagnosis - Coats plus syndrome Prognosis - Coats plus syndrome Treatment - Coats plus syndrome Resources - Coats plus syndrome Not supplied. [checkorphan.org]

To prevent telomere shortening, telomerase, a ribonucleoprotein enzyme, extends telomeres by reverse transcription. This is crucial for telomere length maintenance in germ cells, stem cells and cancers. [imb.sinica.edu.tw]

Other treatments are designed to prevent or lessen complications of GBS. [encyclopedia.com]

Identification of therapeutic strategies that may prevent the aggregation of these proteins and rescue dysfunctional cells has been stressed. [ncbi.nlm.nih.gov]

The primary aim of treatment is to prevent further deterioration in vision as a result of fluid reaching the central retina (macula). [gosh.nhs.uk]