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RACP Paeds Written Exam > Physical Features of Syndromes > Flashcards

Physical Features of Syndromes Flashcards

1
Q

Short stature

A 
Turners
Noonan
Fanconi Anaemia
Williams
22q
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2
Q

Disproportionate short stature (limb/torso discrepancy)

A

Russel Silver
Achondroplasia
Other skeletal dysplasias

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3
Q

Tall stature

A 
Marfan
Homocystinuria
Kleinfelter
Sotos
BWS
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4
Q

Obesity

A

Prader-Willi

Bardet-Biedl

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5
Q

Hypotonia in infancy

A 
T21
Prader WIlli
Myotonic dystrophy
SMA
Peroxisomal disorders (Zellweger, adrenoleukodystrophy)
Cognenital disorders of glycosylation
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6
Q

Pubertal delay

A

Turner

Kleinfelter

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7
Q

Coarse facies

A

Mucopolysaccharidosis, storage disorders
Noonan
Cornelia de Lange

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8
Q

Radial ray defect

A 
Fanconi
Thrombocytopenia & absent radius (TAR)
VACTERL
Blackfan DIamond Anaemia
Goldenhar
Holt Oram
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9
Q

Deafness with a normal external ear

A 
Waardenberg
Jervell-Lange-Nielson
Usher
Pendred
Alport
NF2
T21
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10
Q

Deafness with abnormal external ear

A

Goldenhar
Treacher-Collins
Brachio-oto-renal

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11
Q

Cleft lip/palate

A 
22q11 (palate ONLY)
Stickler
Pierre Robin
T13
Kabuki
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12
Q

Coloboma

A

Cat eye
CHARGE
Treacher Collins

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13
Q

Cataracts

A

T21
Smith-Lemil-Opitz
NF2
Cockayne

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14
Q

Lens dislocation

A

Marfan (upwards dislocation)

Homocystinuria (downwards dislocation)

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15
Q

Cafe au Lait spots

A 
NF1
Fanconi Anaemia
McCune-Albright
Legius
LEOPARD
Bloom
Watson
Russel-Silver
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16
Q

Aortic stenosis

A

Williams

Storage disorders

17
Q

Pulmonary Stenosis

A 
Noonan
Alagille
WIlliams
Turners
T21
18
Q

Conotruncal

A

22q

19
Q

ASD/VSD

A 
T21
22q
FAS
Cornelia de Lange
Noonan
20
Q

Coarct

A

Turner

Kabuki

21
Q

Aortic dilatation

A

Marfan
EDS
Loeys Dietz

22
Q

Butterfly vertebrae

A

VACTERL

Alagille

23
Q

Clinodactyly

A

T21
Russel-Silver
Kleinefelter

24
Q

Syndactyly

A

Carpenters
Cornelia de Lange
Trisomies
Smith-Lemli-Opitz

RACP Paeds Written Exam (15 decks)

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