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Pediatric > Genatics > Flashcards

Genatics Flashcards

1
Q

• Round face / microcephaly
• Wide-set eyes
• Small iaw
• Hypotonia
• High pitched cry

A

Cri du Chat syndrome: (5q micodeltion)

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2
Q

Narrow face
Small chin
Long nose
Hypogonadisim
Infertility
Gynecomastia
Tall stature
N (puberty&intelligence)

A

Klinefelter syndrome: (XXY)

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3
Q

Wide mouth
Prominent chin
Widely spaced teeth
Ataxia
Epilepsy
Cognitive impairment

A

Angelman syndrome: (imprinting maternal)

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4
Q

Small chin
Low-set ears
Wide-set eyes
Cleft palate (posterior)
Cardiac anomalies
Hypoplasia of thymus/ low t cells/ low Ca
Immune dysfunction
Autism

A

DiGeorge syndrome (velocardiofacial syndrome): (22q11 microdeltion)

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5
Q

Round face
Upward slanting eyes / epicanthic fold
Flat nasal bridge
Small mouth / protruding tongue
Small ear
Short neck
Short & incurved fifth finger / 1 palmar crease
Sandal gap
Brushfeild spot in iris
Flat occiput / 3rd fontanelle

A

Down syndrome: (Trisomy 21)

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6
Q

Small mouth
Low-set ears
Small jaw
LBW
Prominent occiput
Short sternum
Flexed overlapping fingers
Rocker-bottom feet
Cardiac & renal malformation

A

Edwards syndrome: (Trisomy 18)

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7
Q

Long face / macrocephaly
Large ears
Prominent forehead / mandible
Marcororchidism
Mital valve prolapse
joint laxity/ scoliosis
autism/ hyperactivity

A

Fragile X syndrome: (XR)

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8
Q

Wide-set eyes
Low-set ears
Short neck
Pectus excavatum
CHD (PS+ ASD)
short stature

A

Noonan syndrome:

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9
Q

Cleft lip/palate
Small eyes
Low-set ears
Structural Defect of brain
Scalp defect
Polydactyly
Cardiac and renal malformation

A

Patau syndrome: (trisomy13)

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10
Q

Narrow forehead
Almond-shaped eyes
Thin upper lip
Hypotonia
Hypogonadism
Neonatal feeding difficulty
Faltring growth in jnfancy
Hyperphagia and obesity
Delay
Learning difficulty

A

Prader-Willi syndrome: (Imprinting paternal)

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11
Q

Webbed neck
Low-set ears
Widely spaced nipples
Lymphedema (Feet & hands (neonates))
Spoon nails
Short stature
Infertility

A

Turner syndrome: (XO)

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12
Q

Elongated face
Wide mouth
Full lips
Hypercalcemia
Supravalvular aortic stenosis
Short stature

A
  1. Williams syndrome: (7q11 microdeltion + elastin gene)
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13
Q

Short stature below 3rd percentile.
Rhizomelic Shorting (Short proximal long bones)
Trident hands.
Stenosis of foramen magnum.
Macrocephaly.
Midface hypoplasia
Ice cream scoop shape femoral head.
Squared-off iliac wings (Champagne glass sign).
Increase risk of OSA & UAO.
Delay in gross motor development.

A

Achondroplasia

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14
Q

Broad forehead
Deep-set eyes
Pointed chin
Butterfly vertebrae

A

Alagille syndrome

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15
Q

Long, narrow face
Prominent ears

A

Alport syndrome

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16
Q

Flattened face
High forehead
Fused fingers and toes

A

Apert syndrome

17
Q

Macroglossia (enlarged tongue)
Omphalocele (abdominal wall defect)
LGA

A

Beckwith-Wiedemann syndrome:

18
Q

Protruding eyes
Beaked nose
Underdeveloped upper jaw

A

Crouzon syndrome

19
Q

Small chin
Low-set ears
Wide-set eyes
Cleft palate (posterior)
Cardiac anomalies
Hypoplasia of thymus/ low t cells/ low Ca
Immune dysfunction
Autism

A

DiGeorge syndrome (velocardiofacial syndrome): (22q11 microdeltion)

20
Q

Smooth philtrum (groove between nose and upper lip)
flat of the groove between nose and upper lip
Thin upper lip
Small palpebral fissure
Growth restriction
CNS damage

A

Fetal alcohol syndrome

21
Q

Long, narrow face
Arched palate
Crowded teeth

A

Marfan syndrome:

22
Q

Micrognathia
Glossoptosis (upper airway obstruction)
Cleft palate

A

Pierre Robin syndrome:

23
Q

Triangular face
Small jaw
Downturned mouth

A

Russell-Silver syndrome:

24
Q

Large for gestational age
Excessive growth in 1st year of life
Large head , frontal prominence
Large hand and feet
Premature tooth eruption
Intellectual disability
Behavioral problems (Autism)
Seizure
Hypotonia
Monotone voice

A

Sotos syndrome

25
Q

Eczema-like rash on face and body
Wide-set eyes

A

Wiskott-Aldrich syndrome

Pediatric (2 decks)

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