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Samenvatting MWO1 overzicht dysmorfologie
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MWO1 overzicht dysmorfologie bachelor jaar 1
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By: kaygraanoogst02 • 1 year ago
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srbbnzdh
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Op de CAT moet je tenminste 2 kenmerken noemen van een syndroom!Williams syndroom - Krullend haar
- Volle oogleden
- Volle wangen
- Bolle neuspunt
- Korte lengte
- Lang filtrum (afstand mond-neus)
- Platte neusbrug
- Ruimtes tussen de tanden
- Dikke onderlip
- Verstandelijke achterstand
Noonan syndroom - Hartafwijking
- Korte lengte
- Pectus (borstkas naar binnen)
- Vertraagde ontwikkeling
- Stolling
- Downslant
- Ptosis (hangend ooglid)
- Laagstaande oren
- Korte nek
- Hypertelorisme (ogen wijd)
Achondroplasie - Macrocephalie (groot hoofd)
- Korte ledematen
- Korte lengte
- Lage neusbrug
- 3de en 4de vinger staan uit elkaar
Downsyndroom - Hartafwijking
- Ontwikkelingsachterstand
- Hypotonie (lage spierspanning)
- Aangeboren afwijkingen
- Vroege dementie
- Brachycephalie
- Epicanthus (huidplooi ooghoek)
- Upslant
- Brushfield spots (ogen)
- Sandle gap
- Doorlopende handlijn
22q11 deletie syndroom - Hartafwijking
- Korte lengte
- Palatoschisis
- Nasale spraak
- Ontwikkelingsachterstand
- Afweer <
- Brede rechte neusrug
Turner syndroom - Korte lengte
- Ovarian failure
- Hartafwijking
- Brede nek
Overzicht MWO1 - Sofia Rabbanizadah p.1
, - Brede thorax
- Opgezwollen hand
- Nagels dieper
Marfan syndroom - Lange lengte
- Lange armen en vingers
- Aortadilatatie (Verwijding aorta)
- Pneumothorax (klaplong)
- Lensluxatie
- Striae huid
Neurofibromatosis 1 (NF1) Moet voldoen aan meer dan 2 criteria:
- 6 of meer CAL (cafe au lait) vlekken
- Sproeten in oksels/liezen
- 1e graads familielid met NF1
- Meer dan 2 Lisch noduli (bruine vlekken oog)
- 2 of meer neurofibromen (bultjes)
- Glioom opticus
Flashcards syndromen
Williams syndroom
Noonan syndroom
Overzicht MWO1 - Sofia Rabbanizadah p.2
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