Wikipedia's Cornelia de Lange Syndrome as translated by GramTrans La ĉi-suba teksto estas aŭtomata traduko de la artikolo Cornelia de Lange Syndrome article en la angla Vikipedio , farita per la sistemo GramTrans on 2016-07-09 13:47:00.

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What is the Cornelia de Lange Syndrome? Cornelia de Lange syndrome (CdLS), also known as Brachmann de Lange syndrome, is a rarely seen genetic disorder characterised by facial features such as monobrow (synophrys), long eyelashes, anteverted nostrils, a long filtrum and thin lips. What is Cornelia de Lange syndrome. Cornelia de Lange syndrome is a rare genetic disorder that is apparent at birth (congenital) causing delays in physical development before and after birth (prenatal and postnatal growth retardation) that affects many parts of the body 1).The severity of Cornelia de Lange syndrome and the associated signs and symptoms can vary widely among affected The syndrome is named after Dutch pediatrician Cornelia Catharina de Lange, who described it in 1933.

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Vanliga orsaker Dessa förhållanden orsaka mikrocefali: Cornelia de Lange syndrom Cri du chat syndrom Downs syndrom Rubinstein-Taybis syndrom Seckel 

Cornelia de Lange Syndrome Foundation. Retrieved 12 February 2013.

Cornelia de lange syndrome wikipedia

2007-01-28

In addition to their often-distinctive facial features, patients with Cornelia de Lange syndrome will also sometimes have a number of other unusual physical features. One is that the child will often be born particularly hairy, although this hair will usually gradually become thinner over time. Patients with Cornelia de Lange syndrome will sometimes experience intellectual disabilities. They will tend to experience learning difficulties from a young age and will remain behind other people in terms of intellect as adults.

Cornelia de lange syndrome wikipedia

Cornelia Catharina de Lange (24 June 1871 – 28 January 1950) was a Dutch pediatrician. Cornelia de Lange syndrome is named after her..
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Syndromet finns i olika typer med varierande svårighetsgrad. Cornelia de Lange syndrome. Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that presents with variable clinical abnormalities including dysmorphic features, severe growth retardation, global developmental delay, and intellectual disability.

It is caused by variants in any one of seven genes, all of which ha … Cornelia de Lange syndrome (CdLS; MIM #122470, 300590, 610759, 614701, 300882) is a rare and clinically variable disorder that affects multiple organs. It is characterized by intellectual disability (mild to severe), distinctive facial features, prenatal and postnatal growth retardation, and hirsutism. Cornelia de Lange syndrome (CdLS) is a genetic disorder.
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Named after Dutch pediatrician Cornelia Catharina de Lange, who described it. Noun . Cornelia de Lange syndrome (uncountable) A genetic disorder associated with dwarfism, bushy eyebrows, and various other physical and mental abnormalities. Synonyms . Amsterdam dwarfism; References . What is the Cornelia de Lange Syndrome?

Cornelia de Lange syndrom  Bild Vater Syndrome Or VACTERL Association – RisMed Online. VACTERL association - Wikipedia. bild. Bild VACTERL Association - Wikipedia.


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Stendhals syndrom film – Wikipedia ~ Stendhals syndrom originaltitel La sindrome di Cornelia de Langes syndrom Socialstyrelsen ~ Arch Dis Child 1999 81 

Cornelia de Lange, eine holländische Kinderärztin, beschrieb dieses Syndrom 1933. Le syndrome de Cornelia de Lange ou syndrome de Brachmann-de Lange est une maladie génétique associant un visage caractéristique avec synophris, un retard de croissance intra utérin avec microcéphalie, un hirsutisme, un comportement agressif et des anomalies des membres supérieurs atteignant surtout les doigts allant d'anomalies très légères à une oligodactylie (diminution du nombre de doigts ou d'orteils). Cornelia de Langes syndrom tillhör en sjukdomsgrupp som kallas kohesinopatier, eftersom de beror på störningar i uppbyggnaden av kohesiner, proteinkomplex som reglerar uppdelningen av kromosomerna vid celldelning. Syndromet finns i olika typer med varierande svårighetsgrad. Cornelia de Lange syndrome. Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that presents with variable clinical abnormalities including dysmorphic features, severe growth retardation, global developmental delay, and intellectual disability.

Background: Cornelia de Lange syndrome is a rare genetic disease characterized by distinctive facial dysmorphia and dwarfism. Multiple organ system involvement is typical. Various central nervous system (CNS) aberrations have been described in the pathology literature; however, the spectrum of neuroimaging manifestations is less well documented.

Ideal sources for Wikipedia's health content are defined in the guideline Wikipedia:Identifying reliable sources (medicine) and are typically review articles. Here are links to possibly useful sources of information about Cornelia de Lange syndrome. The TRIP database provides clinical publications about evidence-based medicine. This article is Historie: Cornelia de Lange syndrom (CdLS) byl poprvé popsán v roce 1849 Vrolikem, který podal nepřesný popis případu člověka malého vzrůstu, krčních žeber a nadměrné ochlupení. Ale vůbec první podrobněji zdokumentovaný případ byl v roce 1916 Winfriedem Robertem Clemens Brachmannem (r.1888-r.1916 ), který popisoval ojedinělý případ z pitevního nálezu. Cornelia de Lange syndrome (CdLS) is a genetic disorder.

It affects males and females equally, a The syndrome is named after Dutch pediatrician Cornelia Catharina de Lange, who described it in 1933. It is often termed Brachmann de Lange syndrome or Bushy syndrome and is also known as Amsterdam dwarfism. Its exact incidence is unknown, but it is estimated at 1 in 10,000 to 30,000.