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WAGR syndroom

Het WAGR syndroom is een aangeboren aandoening. Het ontstaat doordat er een stukje DNA (erfelijk materiaal) van de korte arm van chromosoom 11 ontbreekt. De kenmerken verschillen per persoon. De naam WAGR komt uit het Engels. Het zijn de eerste letters van de vier kenmerken die bij dit syndroom het meest voorkomen: W Wilm's tumor WAGR syndrome is a rare genetic syndrome in which affected children are predisposed to develop Wilms tumour, Aniridia, Genitourinary anomalies, and mental Retardation. The G is sometimes instead given as gonadoblastoma, since the genitourinary anomalies can include tumours of the gonads. Some WAGR syndrome patients show severe childhood obesity and hyperphagia; the acronym WAGRO has been used to describe this category and may be associated with the coinciding loss of BDNF a gene.

Het WAGR syndroom is een zeldzame aangeboren aandoening. Naar schatting wordt ongeveer 1 op 500.000 - 1.000.000 kinderen geboren met dit syndroom. De term WAGR [ is een afkorting van de meest voorkomende kenmerken: Wilms tumor, Aniridie, Genitaal- en urinewegafwijkingen en ontwikkelingsachterstand (in het Engels: ^Range of developmental delays _) Het WAGR syndroom is een aangeboren aandoening. Het ontstaat doordat er een stukje DNA (erfelijk materiaal) van de korte arm van chromosoom 11 ontbreekt. De kenmerken verschillen per persoon. De naam WAGR komt uit het Engels Belangrijkste betrokken gen: WAGR is het gevolg van een deletie van op de korte arm van chromosoom 11 (deletie 11p13 What is WAGR syndrome? WAGR syndrome is a rare genetic disorder WAGR is an acronyn for the most common feature Ik had dit zelf al vermoed door te zoeken op Google en omdat ik het al eens eerder gehoord had. Bij mijn zoontje was het even ter sprake geweest, dus ik wist meteen dat het goed fout zat. Haar zicht zal hooguit 20% worden, maar meestal rond de 10 tot 15%

WAGR syndroom Erfelijkheid

de WAGR syndroom is een zeldzame genetische aandoening die zowel meisjes als jongens kan treffen. Kinderen die worden geboren met het WAGR-syndroom ontwikkelen vaak oogproblemen en lopen een hoger risico op het ontwikkelen van bepaalde vormen van kanker, evenals intellectuele handicaps The WORLD AMATEUR GOLF RANKING® ranks male and female amateur golfers by assessing performance at thousands of amateur golf tournaments and championships, worldwide Inzamelingsactie - Onderzoek betekent betere toekomst voor kinderen met het WAGR syndroom! Sluit je ogen niet voor deze zeer zeldzame ziekte en doneer voor de IWSA! Deze maand 4 jaar geleden kreeg onze dochter Maelynn de diagnose WAGR syndroom. Onze wereld stortte in. Huisarts en kinderarts war. WAGR syndroom. Bij het WAGR syndroom is de iris van het oog niet goed aangelegd, zijn er afwijkingen aan de urine- en geslachtsorganen en zijn de verstandelijke vermogens verminderd. Bij dit syndroom is er een microdeletie in chromosoom 11 (11p13 regio) gevonden welke een rol lijken te spelen bij het ontstaan van de Wilms tumor

WAGR syndrome - Wikipedi

  1. In people with WAGR syndrome, Aniridia occurs as a result of a deletion of one copy of the gene called PAX6. This gene is located on the short (p) arm of Chromosome 11. This type of Aniridia is usually not inherited. Learn More - Genetics of WAGR Syndrom
  2. WAGR syndrome is a disorder that affects many body systems and is named for its main features: Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability (formerly referred to as mental retardation). People with WAGR syndrome have a 45 to 60 percent chance of developing Wilms tumor, a rare form of kidney cancer
  3. WAGR syndrome is a rare genetic condition that can affect both boys and girls. Babies born with WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer, and mental retardation. The term WAGR stands for the first letters of the physical and mental problems associated with the condition
  4. What is WAGR Syndrome? Who We Are. Leadership Tea
  5. Het WAGR-syndroom (ook wel bekend als het WAGR-complex of wilmstumor-aniridie) is een zeer zeldzaam syndroom waarbij de persoon een aangeboren aanleg heeft voor het ontwikkelen van een '''w'''ilmstumor (niertumor), '''a'''niridie (het ontbreken van de iris), (uro)'''g'''enitale afwijkingen, en '''r'''etardatie (geestelijke beperking). 16 relaties

WAGR is an acronym for W ilms tumor, A niridia, G enitourinary problems (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), and R ange of developmental delays. A combination of two or more of these conditions is usually present in most individuals with WAGR syndrome WAGR staat voor Wilms tumor (nierkanker), Aniridie, Genitale afwijkingen en mentale Retardatie. Er werden meteen afspraken gemaakt met oftalmologie, urologie, radiologie, NKO Dylan zou levenslang opgevolgd moeten worden voor dit syndroom WAGR syndroom optreedt wanneer chromosoom 11 ontbreekt genen. Dit wordt beschouwd als een van de meest zeldzame genetische aandoeningen. Zowel jongens als meisjes worden geboren met deze genetische syndroom. Het kan een verscheidenheid aan symptomen, waaronder mentale retardatie,. WAGR syndrome/11p deletion syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or intellectual disability. WAGR is an acronym for the characteristic abnormalities associated with the syndrome Het CFC syndroom . Wat is het CFC syndroom? Het CFC syndroom is een erfelijke aandoening waarbij kinderen een ontwikkelingsachterstand hebben in combinatie met een typisch uiterlijk, een aangeboren afwijking van het hart en typische huidafwijkingen

WAGR syndroom Huisarts en Genetic

A 37-year-old Japanese man was referred for gradual deterioration of renal function: serum creatinine level was from 2.0 and 4.3 to 6.8 mg/dl and estimated glomerular filtration rate was from 30 and 12 to 8 ml/min per 1.73 m2 over 2 years. The patient was born with aniridia and cryptorchidism. At the age of 4 years, he was diagnosed with WAGR (Wilms' tumor, aniridia, genitourinary anomalies. WAGR syndroom Nederland. 164 likes. Nederlandse community voor het het delen van informatie en ervaringen voor degenen die getroffen zijn door WAGR syndroom/11p deleties ALTE bij baby's is een plotselinge, ogenschijnlijk levensbedreigende situatie bij een van tevoren gezonde baby. Wat is de oorzaak en de symptomen El síndrome WAGR es causado por una deleción de material genético de una región del brazo corto del cromosoma 11 (11p13). El tamaño de la deleción varía entre las personas afectadas. Las señales y los síntomas del síndrome de WAGR están relacionados con la pérdida de múltiples genes en el brazo corto del cromosoma 11. El síndrome de WAGR se puede considerar como un síndrome de. The WAGR syndrome or complex stands for: Wilms tumors (greatly increased risk) aniridia genitourinary anomalies intellectual retardation (disability) Pathology Genetics Occurs from a mutation related to chromosome 11p13 3 which is in close..

WAGR syndroom Arts en Genetic

International WAGR Syndrome Associatio

  1. Wat Is WAGR Syndroom? WAGR syndroom optreedt wanneer chromosoom 11 ontbreekt genen. Dit wordt beschouwd als een van de meest zeldzame genetische aandoeningen. Zowel jongens als meisjes worden geboren met deze genetische syndroom. Het kan een verscheidenheid aan symptomen
  2. Gezondheid: WAGR syndroom . De WAGR syndroom is een zeldzame genetische syndroom waarbij getroffen kinderen vatbaar zijn voor het ontwikkelen van Wilms tumor, aniridia (afwezigheid van de iris ), urogenitale afwijkingen en mentale retardatie. Deze situatie het gevolg van een deletie op chromosoom 11 resulteert in het verlies van verscheidene genen
  3. Von Hippel-Lindau syndroom (VHL): Meer kans op goedaardige tumoren met name in de kleine hersenen, ruggenmerg, ogen, bijnieren en oren. WAGR syndroom: Meer kans op een zeldzame vorm van nierkanker. Werner syndroom: Meer kans op verschillende soorten van kanker, zoals sarcomen, huidkanker en schildklierkanker
  4. Syndromen geassocieerd met wilmstumoren zijn het syndroom van Beckwith-Wiedemann (visceromegalie, macroglossie, omfalocele en hyperinsulemische hypoglykemie bij pasgeborenen, geïsoleerde hemihypertrofie, WAGR-syndroom (wilmstumor, aniridie, genito-urethrale malformaties en mentale retardatie), sporadische aniridie, Danys Drash (nefropathie, nierfalen, mannelijk pseudohermafroditisme en.
  5. The Men's Ranking within the WORLD AMATEUR GOLF RANKING® system ranks amateur golfers on the basis of their average performance in Counting Events over a rolling cycle of the last 104 weeks

WAGR-syndroom WIJ.n

het WAGR-Syndroom; Behandeling nefrotisch syndroom, Wilmstumor en genitaliën Een nefroloog (nierspecialist), oncoloog (specialist in kanker), chirurg, endocrinoloog en geneticus werken samen bij de behandeling van de patiënt. De behandeling bestaat voornamelijk uit chirurgie Animated Mnemonics (Picmonic): https://www.picmonic.com/viphookup/medicosis/ - With Picmonic, get your life back by studying less and remembering more. Med.. AGR syndrome is a subgroup of WAGR syndrome in which patients do not develop Wilms tumor and is associated with deletion of chromosome 11p14.1-p13, where the LGR4 gene (GPR48; 606666) is located. Yi et al. (2014) found that mice lacking Lgr4 had aniridia, polycystic kidney disease, genitourinary abnormalities, and mental retardation, similar to the pathologic defects of AGR syndrome

WAGR syndroom: Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome: WAGR syndroom: Witteveen-Kolk syndroom: Wolf-Hirschhorn syndroom: X: X-gebonden spondylo-epifysaire dysplasie tarda: Spondylo-epifysaire dysplasie tarda, X-gebonden: Z: Zellweger syndroom: Ziekte van Hurler: MPS type I WAGR Syndrome definition, symptoms, and treatment options. Rare Disease New WAGR syndrome consists of Wilms tumor, aniridia, genitourinary anomalies, and mental retardation, and is caused by deletions of 11p13 and hemizygosity in this region. Further, the phenotype caused by the deletions suggested that there was a tumor suppressor in this region related to Wilms tumor (for a review, see Hastie 67) - WAGR-syndroom - Carpenter syndroom - het Cohen syndroom - het Börjeson-Forrssman-Lehmannsyndroom. Deze syndromen typeren zich meestal door een zeer jong ontwikkelde ernstige obesitas vóór de leeftijd van 5 jaar, soms in combinatie met hyperfagie, een ongeremde eetlust

WAGR syndrome is a rare genetic disorder characterized by a de novo deletion of 11p13 and is clinically associated with Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (W-A. Aniridia may also be one of the features associated with the WAGR syndrome. Aniridia Europe cooperates with the International WAGR Syndrome Association (IWSA). Please visit wagr.org for further information. A full session about WAGR Syndrome was also included in the 3 rd European Conference on Aniridia in 2016 WAGR syndrome synonyms, WAGR syndrome pronunciation, WAGR syndrome translation, English dictionary definition of WAGR syndrome. n. 1. A group of symptoms that collectively indicate or characterize a disease, disorder, or other condition considered abnormal. 2. a WAGR syndrome is a rare genetic disorder characterized by a de novo deletion of 11p13 and is clinically associated with Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (W-A-G-R). Although the genotypic defects in WAGR syndrome have been well established, the large variety of phenotypic manifestations of the syndrome has never been reported Synonyms for WAGR syndrome in Free Thesaurus. Antonyms for WAGR syndrome. 7 synonyms for syndrome: condition, complaint, illness, symptoms, disorder, ailment, affliction. What are synonyms for WAGR syndrome

WAGR syndroom - Geneesmiddel - 202

Discussion. Relapsing acute pancreatitis is a recognised clinical feature of WAGR syndrome, 1 a rare congenital anomaly syndrome consisting of Wilm's tumour, aniridia, genital abnormalities and mental retardation, due to a chromosomal deletion in the short arm of chromosome 11. Acute pancreatitis can be life threatening to patients with WAGR; therefore, prevention of pancreatitis is an. Related to WAGR syndrome: Velocardiofacial syndrome, Wilms tumor, Turner syndrome, Prader Willi syndrome syndrome Med any combination of signs and symptoms that are indicative of a particular disease or disorde Fischbach BV, Trout KL, Lewis J. WAGR syndrome: A clinical review of 54 cases. Pediatrics. Oct 2005. 116:984-988. Dahan K, Kamal M, Noel LH, et al. Small glomeruli in WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies and mental retardation) syndrome. Am J Kidney Dis. June 2007. 49:522-527

The World Amateur Golf Rankings® (WAGR®) The Official

DECIPHER helps the clinical community share and compare human genome variants and phenotypes in a database of tens of thousands of patients worldwid Range of developmental delays. People with Wagr Syndrome can experience a range (the R of Wagr Syndrome) of developmental delays. Learning difficulties, psychiatric problems like anxiety, depression, and others, and behavioral problems like OCD (obsessive compulsive disorder) and ADHD (attention deficit hyperactivity disorder) are not uncommon in Wagr Syndrome

WAGR syndrome (also known as WAGR complex, Wilms tumour-aniridia syndrome, aniridia-Wilms tumour syndrome) is a rare genetic syndrome in which affected children are predisposed to develop Wilms tumour (a tumour of the kidneys), Aniridia (absence of the coloured part of the eye, the iris), Genitourinary anomalies, and mental Problems. [1] The G is sometimes instead given as gonadoblastoma. From GHR WAGR syndrome is a disorder that affects many body systems and is named for its main features: Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability (formerly referred to as mental retardation).People with WAGR syndrome have a 45 to 60 percent chance of developing Wilms tumor, a rare form of kidney cancer. . This type of cancer is most often diagnosed in children.

Betere toekomst voor kinderen met WAGR syndroom! Geld

Andere betekenissen van WAGR Naast Nefroblastoom tumor/Aniridie/Genitourinary anomalieën - mentale retardatie syndroom heeft WAGR andere betekenissen WAGR Syndrome WAGR-syndrom Engelsk definition. A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of WILMS TUMOR; ANIRIDIA; GENITOURINARY ABNORMALITIES; and INTELLECTUAL DISABILITY.. Se äve

WAGR syndroom Zicht op Zeldzaa

WAGR syndrome An AD complex characterized by Wilms' tumor-WT, aniridia, genitourinary abnormalities-renal agenesis, gonadoblastoma, mental retardatio WAGR syndrome: Deletion of the 11p13 band leads to the deletion of the WT1 gene and other genes, such as PAX6. [6] Wilms tumor; Aniridia; Genitourinary anomalies. Pseudohermaphroditism, undescended testes in males (due to gonadal dysgenesis) Early-onset nephrotic syndrome; Intellectual disabilit WAGR (Wilms' tumor, aniridia, genitourinary anomalies, and a range of developmental delays) syndrome, which was confirmed by fluorescence in situ hybridization, revealing deletion of the WT1 and PAX6 genes on chromosome 11p13. Abdominal ultrasonography was performed every 6 months until the patient was the age of 16 years, and he had n We hebben geen vertalingen voor WAGR syndrome in Nederlands > Duitsprobeer het met Google Tips bij de vertalingen: Wellicht vind je het woord op één van deze websites: Encyclo.nl (Betekenissen van Nederlandstalige woorden) Encyclo.co.uk (Betekenissen van Engelstalige woorden) Enzyklo.de (Betekenissen van Duitstalige woorden

Aniridia and WAGR Syndrome: A Guide for Patients and Their Families (English Edition) eBook: Nerby, Jill Ann, Otis, Jessca: Amazon.nl: Kindle Stor Obesity and WAGR syndrome. February 2000; Clinical Dysmorphology 9(1):63-4; DOI: 10.1097/00019605-200009010-00014. WAGR syndrome: | | | WAGR syndrome | | | | Classif... World Heritage Encyclopedia, the aggregation of the largest online encyclopedias available, and the most. WAGR Syndrome Add Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome Add Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome Add Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome Add Wilms Tumor-Aniridia-Genitourinary Anomalies. WAGR Syndrome is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings).Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity

About WAGR - A is for Aniridi

The International WAGR Syndrome Association promotes awareness, stimulates research, and supports families affected by WAGR syndrome. The syndrome is ultra rare, with less than 500 diagnosed cases worldwide, and the IWSA provides information for families, physicians, researchers, educators and others in an effort to improve the quality of life for individuals with WAGR syndrome WAGR Syndrome and other rare genetic diseases. OUR STORY. Being told your newborn daughter is legally blind, and will face a lifetime of health and developmental challenges is every parents worst nightmare. This became our reality in December of 2013 when genetic testing confirmed our then 4-month-old daughter Miranda has WAGR Syndrome International WAGR Syndrome Association. Skip to content. Just added to your cart. Qty: View cart () Continue shopping Submit. Close search. Every purchase supports the mission of the IWSA and helps to improve the lives of individuals with WAGR syndrom

WAGR syndrome is caused by a deletion on chromosome 11 inclusive of both WT1 and the PAX6 gene, which is associated with aniridia. Aniridia is characterized by bilateral underdevelopment or absence of iris tissue and is typically the first noticeable sign of WAGR syndrome. In individuals with WAGR syndrome, Wilms tumor presents earlier and is more often bilateral than in isolated Wilms tumor. station 102.5 FM licensed to Lexington, Mississippi, United States WAGR syndrome Western Australian Government Railways Wilms tumor 1, a protein The Denys and Overview. WAGR syndrome is a disorder that affects many body systems and is named for its main features: Wilms tumor, anirida, genitourinary anomalies (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), and intellectual disability (formerly referred to as mental retardation) Symptoms of WAGR syndrome. Babies born with WAGR syndrome often have eye problems, and are at high risk for developing certain types of cancer, and mental retardation.. The term WAGR stands for the first letters of the physical and mental problems associated with the condition: (W)ilms' Tumor, the most common form of kidney cancer in children. (A)niridia, some or complete absence of the. This is 4 WAGR syndrome by Deep Blue Digital on Vimeo, the home for high quality videos and the people who love them

Classical WAGR syndrome includes Wilms tumor with Aniridia, Genitourinary abnormalities and mental Retardation, but the phenotype is highly variable. The term 'WAGR syndrome' is used even in the absence of all four classical features WAGR Syndrome is a very rare yet serious genetic disease. Only 1 in every 500,000 people have this disease. There are 450 cases in the world and these cases have been in 27 countries. It is caused by the deletion of the chromosome 11p. The diagnosis for WAGR usually happens right after birth since most of the symptoms can be seen immediately WAGR/11p deletion syndrome is a condition caused by genetic mutations on the 11th chromosome. It affects more than one gene and the exact mutation can vary between patients, so there are a range of symptoms. The acronym WAGR describes the four most common: Wilms' Tumour - A form of kidney cancer affecting children Aniridia Genitourinar

Pure pech, een zeldzaam foutje van Moeder Natuur. Die diagnose kregen de ouders van Dylan (2) te horen na zijn geboorte. De Peltse peuter lijdt aan het WAGR-syndroom, een uiterst zeldzame. The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, Aniridia, Genito5urinary abnormalities, and growth and mental Retardation which is invariably associated with an 11p13 deletion. This deletion included the PAX6 and WT1 genes as previously reported in typical WAGR patients. Ocular defects result from hemizygosity for the PAX6 gene 1. Introduction The WAGR syndrome (Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation) is a rare congenital condition caused by a heterozygous chromosomal microdeletion resulting in a contiguous gene syndrome (OMIM No. 194072). The prevalence of WAGR syndrome is estimated to be less than 1 in 100.000 births, and because most individuals with WAGR hav

WAGR syndrome. WAGR syndrome is a disorder that affects many body systems and is named for its main features: Wilms tumor, anirida, genitourinary anomalies, and intellectual disability (formerly referred to as mental retardation).People with WAGR syndrome have a 45 to 60 1 More on WAGR syndrome Introduction. WAGR syndrome (OMIM #194072) is a rare genetic disease that consists of development of Wilms' tumor (nephroblastoma), aniridia, genitourinary anomalies and intellectual disability (mental retardation).It occurs with a birth prevalence of 1/500 000 ().WAGR syndrome is caused by 11p13 deletions encompassing loci of the PAX6 and WT1 genes WAGR syndrome (Wilms tumor, aniridia, genitourinary abnormalities, mental retardation) is a rare genetic disorder characterized by a de novo deletion of 11p13.{ref26}{ref27 12-year-old boy presenting with WAGR syndrome (WT, right complete aniridia, bilateral cryptorchidism, interstitial deletion involving band 11p13) but with no mental retardation. An in-depth clinical evaluation revealed no behavioural or social problems and the child's neuropsychological profile was found to be within the normal range for all abilities and functions investigated (with the. Historically, WAGR syndrome has played an important role in our understanding of WT genetics; it contributed to the identification of WT1, the first WT predisposition gene to be identified, in 1990. 4-9 The genetic diagnosis of WAGR syndrome requires the involvement of both WT1 and the aniridia gene PAX6 in the deletion, whereas patients with isolated PAX6 deletions are not at risk of.

There are rare instances of familial recurrence of WAGR syndrome due to inherited chromosomal rearrangements or submicroscopic WAGR deletions. Parents and all at-risk relatives (determined by pedigree analysis) should be evaluated for a WAGR-associated chromosomal rearrangement or sub-microscopic deletion. 9, 1 WAGR syndromeWhat causes this?WAGR syndrom is caused by a deletion of genetic material.Frequency WAGR syndrome ranges from 1 in 500,000 to one million people. It's estimated that 1/3 of people with aniridia have WAGR syndrome. How do you get it?If you think WAGR syndrome is inerited then you are wrong. Most cases of WAGR syndrome are not inherited WAGR syndrome is rare with an estimated prevalence of 1 in 500,00 to 1 per million. Most cases are identified in infancy due to sporadic aniridia, 30% of whom test positive for the WAGR deletion. It is characterised by Wilms' tumour,.

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