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Neonatología > Sindromes > Flashcards

Sindromes Flashcards

1
Q

SD de Turner

A

45, X0. Fenotipo mujer

RN: edema duro en manos y pies, piel redundante en nuca, sg esfinge o cuello alado

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2
Q

SD de Klinefelter

A

47, XXY. Fenotipo varón
Brazada > talla
azooespermia, micropene, infertilidad

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3
Q

SD de Patau

A

Trisomía 13, polidactilia, labio lepurino, paladar hendido, microftalmia
Supervivencia: 1 a 2 años

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4
Q

SD de Edwards

A

Trisomía 18
Superposición de dedos del 5° al 4° y 2° al 3°, micrognotia
Supervivencia: 1 a 2 años

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5
Q

SD de Down

A

Trisomía 21
Retardo mental, fascie down, CAV, mano simiana, signo sandalia
Supervivencia: adultez

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6
Q

Talla corta en SD Turner, por

A

Falta de gen SHOX

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7
Q

Cardiopatía en SD Turner

A

Coartación de aorta

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8
Q

IQ de SD Turner

A

IQ normal

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9
Q

CONSULTAS FRECUENTES en SD Turner

A

Pediatría: Talla corta

Adultos: Amenorrea primaria, infertilidad

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10
Q

SD de Klinefelter, hábito

A

Hábito eunucoide

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11
Q

CONSULTA FRECUENTE en SD de Klinefelter

A

Ginecomastia prepuberal

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Neonatología (16 decks)

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