Kongenitte oversigt Flashcards

1
Q

Øre, næse, hals og mund

A

Læbespalte
Ganespalte
Læbeganespalter
Fordyces granula

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2
Q

Lunger

A

Alpha1-antitrypsin-mangel

Cystisk fibrose

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3
Q

Tyndtarm

A

Meckels divertikel

  • tyndtarm -> umbilicus: fistel
  • ektopisk væv
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4
Q

Lever

A

Biliært mikrohamartom(dilaterede galdegange)

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5
Q

Nyre

A

Polycystisk nyresygdom -(autosomal dominant og recessiv)

Vesikoureteral refluks

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6
Q

Urinveje

A

Vesikoureteral refluks –> infektion

  • kronisk beskadeligelse af nyren
  • kronisk pyelonefritis
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7
Q

Penis

A

Epi- og hypospadi

-ufuldstændig lukning af urethra

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8
Q

Testes og epididymis

A

Kryptorkisme

  • manglende descensus af testes
  • ses: vævsatrofi
  • infertilitet, cancer
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9
Q

Mamma

A

Polyteli
-flere brystvorter langs mælkelisten

Polymasti
-Flere bryster langs mælkelsiten

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10
Q

Knogle

A

Osteogensis imperfecta

  • arvelig defekt kollagensyntese
  • skelet, ligamenter, tænder, sclerae og mellemøre
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11
Q

CNS

A

Hydrocephalus
-Øget CSV pga hæmmet afløb eller øget produktion

Neuralrørsdefekter

  • Spina bifida
  • Menigocele
  • Menigomyelocele

Downs

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12
Q

Hjertet

A

Skal ikke kunne de kongenitte

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13
Q

Kar

A

Coarctatio aortae

Pulmonal stenose

Fibromuskulær dysplasi

(Marfan)

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