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]

  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]

  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]

• 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]

• 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]

• 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]

• 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

  We identified 13 patients, including two pairs of siblings, with extensive cerebral calcifications and leukoencephalopathy. [ncbi.nlm.nih.gov]

  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]

  B P. / 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]

  Methods: We identified 13 patients, including two pairs of siblings, with extensive cerebral calcifications and leukoencephalopathy. [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]

Treatment with a combination of oral oestrogen and progesterone ameliorated the gastrointestinal blood loss such that monthly blood transfusions could be stopped. [ncbi.nlm.nih.gov]

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]

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. [gene-tools.com]

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]

[…] have suggested that the presence of bone marrow failure and telomere dysfunction in patients with CPS could strongly support a relationship between the disruption of telomere homeostasis and the ocular pathology and that the TERC gene deletion could be etiologically [humangeneticsjournal.com]

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

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]

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]

The CST complex helps prevent telomeres from being degraded in some cells as the cells divide. Mutations in the CTC1 gene impair the function of the CST complex, which affects the replication of telomeres. [ghr.nlm.nih.gov]

This enzyme prevents a progressive telomere shortening8. Critical telomere shortening results in a proliferative defect in hematopoietic stem cells leading to bone marrow failure syndrome9. [humangeneticsjournal.com]

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]