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RACP Paeds Written Exam > Physical Features & Cardiac Defects > Flashcards

Physical Features & Cardiac Defects Flashcards

1
Q

Newborn baby

  • micro/anopthalmia
  • cleft lip & palate
  • scalp defect
A 
T13 (Patau)
Median survival 10 days, 92% die by 1 year
VSD
PDA
ASD
Dextrocardia
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2
Q

Newborn baby

  • IUGR
  • Pointy ears, wizened features
  • Rockerbottom foot
  • Fisted hand
  • Omphalocele/malrotation
A 
T18 (Edward)
Majority die in utero/within 48hrs, 90% by 1year
VSD
PDA
(CHD in >50%)
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3
Q

Hypotonia
Low set ears, upslanting palpebral fissures
Sandal gap, single palmar crease

A 
T21 (Down)
Endocardial cushion defects
AVSD most common
ASD
VSD
TOF
PDA
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4
Q 
Tall, slim, underweight
Gynaecomastia
Small testes
Low IQ
Impulsive, aggressive
Delayed puberty
A

Kleinefelter 47 XXY

Mitral valve prolapse (55%)

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5
Q 
Short stature
Web neck/widely spaced nipples
Puffy hands and feet at birth
Hip dysplasia
Radial dysplasia
Horseshoe kidney
A 
Turner XO
Aortic arch malformations
Bicuspid aortic valve
Aortic root dilatation
Prolonged QT
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6
Q 
Elfin face
Puffy eyes
Long flat philtrum
Hypotonia
Overfriendly, social disinhibition, anxiety, attention problems
A

William / 7q11
Supravalvular AS
Peripheral PS

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7
Q 
Small mouth & ears
Asymmetric crying face
Thymic hypoplasia
Cleft palate only
Hypocalcaemia
A

22q11 DiGeorge
CATCH 22
Conotruncal - TOF, IAA, VSD, Truncus
Truncus “pathognomonic”

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8
Q

Greek warrior helmet face
Microcephaly
Recurrent aspiration
Severe ID

A

Wolf Hirshom Syndrome
ASD
VSD
PS

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9
Q

Short stature
Webbed neck
Ptosis
Blue/green eyes

A

Noonan PTPN11 (50%)
Pulmonary valve stenosis
ASD
HOCM

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10
Q 
Lentigines
Ocular hypertelorism
Abnormalities of genitalia
Retarded growth
Deafness
A

LEOPARD
ECG conduction defects & HOCM
Pulmonary stenosis

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11
Q

Loose soft skin with deep palmar/plantar creases
Papillomata of face / perinanal
FTT
Dev delay & ID

A

Costello Syndrome
HOCM
PS
Arrhythmia

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12
Q 
FTT
Dev delay
Seizures
Low ears & flat nasal bridge
Hyperkeratosis/dystrophic nails
Sparse curly hair
A

Cardiofacialcutaneous Syndrome
HOCM
PS
Septal defects

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13
Q

Tall, lanky
Retinal detachment/lens dislocation
Joint hypermobility
Spontaneous pneumothorax

A

Marfan
Aortic diltation
AR/MR
Mitral prolapse

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14
Q

Hypermobility/joint dislocations
Abnormal scarring
Myopia
Hernias, GIT/bladder diverticulae

A

Ehlers Danlos Sydrome
Mitral valve prolapse
Aortic root dilatation

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15
Q

Wide spaced eyes, prominent jaw, long straight nose
Jaundice / cholestasis
Butterfly vertebrae

A

Alagille
Peripheral pulmonary stenosis
ToF

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16
Q 
Coloboma
choAnal atresia
Retarded growth & development
Genital abnormalities
Ear abnormalities
A 
CHARGE
ToF (33%)
VSD
AVSD
Arch abnormalities
17
Q

Radius or thumb abnormalities

A

Holt-Oram
Secundum ASD
VSD
Conduction abnormalities

18
Q

Ptosis, anteverted nostrils, narrow temples
Microcephaly
Hypospadias/cryptocordism/bicornate uterus
Congenital cataract

A

Smith-Lemli-Opitz
AVSD
Anomalous pulmonary venous return

19
Q

Hemifacial microsomia
Ear anomalies, deafness
Cleft palate

A

Goldenhar Sydrome
ToF
Septal defects

20
Q

Micro/retrognathia
Cleft palate
Airway obstruction
Feeding difficulties

A 
Pierre-Robin Sequence
ToF
PDA
ASD
(VSD)
21
Q

Myopia/catarct
Deafness
Assoc PRS

A

Stickler Syndrome
Mitral valve prolapse
(may have other cardiac disease related to PRS)

22
Q

ID
Macrocephaly, long face and ears
ASD, Behaviour (pre-pubertal boys)
Strabismus

A

Fragile X
Mitrsl valve prolapse
Aortic root diltation

23
Q

Smooth philturm, thin upper lip, small palpebral fissures
Irritable, jittery
ADHD
IUGR/short stature

A

Fetal Alcohol Syndrome
ASD
VSD
Conotruncal defects

24
Q 
Vertebral anomalies
Anal anomalies
Tracheo-oesophageal fistula
Renal abnormalities 
Limb - radial dysplasia/thumb abnormalities

Single umbi artery
Abdominal wall defect/diaphragmatic hernia
Retarded growth

A

VACTERL / VATER
Cardiac anomalies = 75%
VSD, ASD, ToF most common
Truncus, TGA less common

RACP Paeds Written Exam (15 decks)

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