19955111 {19955111:9JYSMEDE} 1 Vancouver 50 défaut 4830 https://neuropediatoolkit.org/wp-content/plugins/zotpress/
%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%229JYSMEDE%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Solomon%20and%20Muenke%22%2C%22parsedDate%22%3A%222012%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BSolomon%20BD%2C%20Muenke%20M.%20When%20to%20Suspect%20a%20Genetic%20Syndrome.%20American%20family%20physician%20%5BInternet%5D.%202012%20%5Bcited%202016%20June%2027%5D%3B86%289%29%3A826.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC4131944%5C%2F%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC4131944%5C%2F%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22When%20to%20Suspect%20a%20Genetic%20Syndrome%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Benjamin%20D.%22%2C%22lastName%22%3A%22Solomon%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Maximilian%22%2C%22lastName%22%3A%22Muenke%22%7D%5D%2C%22abstractNote%22%3A%22A%20genetic%20syndrome%20is%20a%20clinical%20situation%20that%20combines%20major%20and%20minor%20malformations%2C%20anomalies%20of%20growth%20and%20of%20psychomotor%20development%20.%20%5Cn%20%5CnPrompt%20recognition%20of%20features%20suggestive%20of%20genetic%20conditions%20can%20improve%20the%20selection%20of%20appropriate%2C%20cost-effective%20diagnostic%20tests%2C%20the%20performance%20of%20well-informed%20genetic%20counseling%20related%20to%20issues%20such%20as%20prognosis%20and%20future%20family%20planning%20and%20timely%20referral%20to%20subspecialists.%20%5Cn%20%5CnGeneral%20themes%20that%20can%20alert%20pediatricians%20to%20the%20presence%20of%20genetic%20syndromes%20include%20dysmorphic%20features%20that%20are%20evident%20on%20physical%20examination%3B%20multiple%20anomalies%20in%20one%20patient%3B%20unexplained%20neurocognitive%20impairment%3B%20and%20a%20family%20history%20that%20is%20suggestive%20of%20a%20hereditary%20disease.%20%5Cn%20%5CnTaking%20an%20accurate%20three-generation%20family%20history%20is%20important%20when%20a%20genetic%20syndrome%20is%20suspected.%20Important%20elements%20include%20the%20age%20and%20sex%20of%20family%20members%3B%20when%20family%20members%20were%20affected%20by%20disease%20or%20when%20they%20died%3B%20the%20ethnic%20background%3B%20and%20if%20there%20is%20consanguinity.%20%5Cn%20%5CnEvery%20effort%20should%20be%20made%20to%20obtain%20complete%20information%20about%20the%20gestation%20leading%20to%20the%20birth%20of%20the%20affected%20child.%20Events%20surrounding%20the%20birth%20of%20the%20child%20may%20be%20critical%3A%20antepartum%20status%2C%20length%20of%20labor%2C%20mode%20of%20delivery%2C%20baby%26%23039%3Bs%20condition%20at%20birth%2C%20measurements.%20%5Cn%20%5CnFinally%2C%20information%20is%20obtained%20about%20the%20child%26%23039%3Bs%20course%20since%20infancy%20along%20the%20lines%20of%20a%20standard%20pediatric%20history%2C%20but%20with%20a%20few%20special%20emphases%3A%20general%20health%2C%20growth%2C%20developmental%20progress%2C%20behavior%2C%20special%20testing%20or%20therapy.%20%5Cn%20%5CnThe%20physical%20examination%20is%20of%20enormous%20importance%3A%20the%20basic%20techniques%20of%20physical%20diagnosis%20are%20used%2C%20but%20the%20examination%20is%20fine%20tuned%20to%20promote%20detection%20of%20many%20subtle%20physical%20clues%20that%20might%20otherwise%20be%20overlooked.%20Selected%20measurements%20of%20physical%20features%20can%20be%20extremely%20useful%20in%20confirming%20a%20clinical%20impression%20of%20abnormality.%20%5Cn%20%5CnThe%20diagnosis%20of%20a%20particular%20disorder%20can%20be%20based%20on%20clinical%20features%2C%20laboratory%20data%2C%20or%20a%20combination%20of%20both.%20%5Cn%20%5CnThe%20provision%20of%20an%20accurate%20diagnosis%20is%20only%20the%20first%20step%20in%20the%20long%20process%20of%20care%20for%20a%20child%20with%20genetic%20syndrome%20and%20the%20pediatrician%20may%20have%20a%20continuing%20role%20in%20working%20with%20the%20patient%20and%20the%20family.%22%2C%22date%22%3A%222012%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1186%5C%2F1824-7288-41-s2-a50%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC4131944%5C%2F%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%221824-7288%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%22CXVJ4856%22%5D%2C%22dateModified%22%3A%222026-07-15T22%3A38%3A15Z%22%7D%7D%5D%7D
1.
Solomon BD, Muenke M. Quand suspecter un syndrome génétique. Médecin de famille américain [Internet]. 2012 [cité le 27 juin 2016];86(9):826. Disponible à partir de : http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131944/

The diagnostic suspicion is based on 3 pillars:

Il existe plusieurs stratégies diagnostiques, qui peuvent être regroupées en :

Tests non-dirigis.

Celles où nous allons examiner tout le gène, aussi appelées tests génétiques. Il n'est pas nécessaire d'avoir une suspicion de syndrome spécifique pour les indiquer, bien que certaines maladies génétiques soient diagnostiquables par le phénotype (comme le syndrome de Down).

Tests directs.

Celles qui cherchent l'identification d'une maladie spécifique, généralement une maladie mono-génétique (qui ce produit par mutation d'un seul gène), quand à travers le phénotype, on peut déjà orienter le tableau clinique, ou parce que la nature de la maladie ne permet pas sa détection par des tests non ciblés. Par exemple :

  • Fibromyalgie type I.
  • X-fragil. Ne peut pas être détecté par l'ACGH ni par la séquençage massive, étant donné qu'il s'agit d'une maladie due aux STR.