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Genética 3er Examen > Fenotipos Columna y genitales > Flashcards

Fenotipos Columna y genitales Flashcards

1
Q

Escoliosis

Es la curvatura de la columna vertebral que se presenta en forma de S o de C

A

Morquio A

Baja estarura 
Displasia esqueletica 
Anomalias dentales 
Pectus carinatum 
Facies TOSCA
Cuello corto 
Vertebras ovoides
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2
Q

Lordosis

Curvatura, de concavidad posterior, existente en la columna vertebral normal, tanto a nivel cervical como lumbar. Cuando es exagerada se habla de lordosis patológica

A

Duchen Distrofia

Atrofia y debilidad muscular 
Dificultad de movimiento 
Contracturas articulares 
Escoliosis 
Lordosis 
Cardiopatia 
PseudoHippertrofia de pantorrillas
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3
Q

Cola coccigea

A 
Anomalías uro genitales 
Ectopia renal
ureteres fusionados 
Vejiga neurogenica 
Anomalías gastrointestinales 
Anomalías congénitas cardíacas
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4
Q

Barbas de Fauno

A

Diastematomelia

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5
Q

Malformación ano-rectal

A

Sirenomelia

Malformaciones graves del sistema musculoesqueletico (agenesia sacra)
Malformación Urogenital
Gastrointestinal inferior

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6
Q

Escroto en bufanda

A

Aarskog

Escoto en bufanda 
Hipertelorismo 
Pico de viuda 
Escroto en chal 
Manos y pies cortos
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7
Q

Escroto bífido

A

Optiz BBB

Ano no perforado 
Escroto bífido
Sindactilia 
Defertos cardiacos 
Defict intelectual 
Frente prominente 
Hipertelorismo 
Labio leporino 
Narinas antevertidas
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8
Q

Micropene

A

Robinow

Micropene 
Hipoplasia genital
Facies fetal 
Hipertelorismo 
Hipoplasia gingival 
Braquidactilia
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9
Q

Macroorquidismo

A

X Fragil

Macroorqudismo 
Rostro alargado y estrecho 
Orejas grandes y de implantación baja 
Retraso 
Hiperlaxitud de dedos
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10
Q

Macrogenitosomia

A

Leprechaunismo

Pezones prominentes 
Macrogenitosomia 
Facies elfica 
orejas grandes 
Manos y pies grandes 
Virilización en niñas
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11
Q

Contractura peneana

A

Anemia de células falciformes

Priapismo 
Hinchazón de manos y piernas 
Ictericia 
Mareos
Piel palida 
Episodios de dolor
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12
Q

Maculas pigementarias en el glande

A

Sx. Bannayan-Riley-Ruvalcaba

Macrocefalia 
Lipomas 
Hemangiomas 
Polipoas intestinales 
retraso mental 
Macculas pigmentadas en el pene
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13
Q

Hipospadias

A

Deficiencia de 5 alfa reductasa Sx 46XY

Pseudohemafrodismo en hombres 
Genitales externos ambiguos 
Escroto bifido 
Hipospadias 
Falo de aspecto clitoriano
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14
Q

Criptorquidia

A

Feminización testicular

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15
Q

Hipoplasia genital

A

Robinow

Hipoplasia genital 
Facies fetal 
Hipertelorismo 
Hipoplasia del tercio medio 
Braquidactilia 
Clinodactilia 
Hipoplasia gingival 
Hipoplasia genital
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16
Q

Atresia vaginal

A

Sx. Mayer-Rokitansky-Küster-Hauser

Aplasia congenita del útero 
Aplasia de los tercios sup de la vagina 
Agenesia renal unilateral 
Agenesias renal unilateral 
Defectos cardiacos

Genética 3er Examen (5 decks)

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