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1
Q

CHD of Noonan syndrome

A

Pulmonary stenosis

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2
Q

Male phenotype of turner syndrome

A

Noonan syndrome

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3
Q

Earliest sign of congenital hypothyroidism

A

Prolonged jaundice

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4
Q

First clinical manifestation of CH

A

Growth delay

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5
Q

MC cause of hypothyroidism

A

Thyroid dysgenisis

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6
Q

MCC of thyroid disease in children

A

Thyroiditis

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7
Q

Swimming pool urine

A

Hawkinsunuria

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8
Q

Sweaty feet, acrid

A

Isovaleric acidemia

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9
Q

Maple syrup

A

MSUD

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10
Q

Boiled cabbage, rancid butter

A

Tyrosinemia

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11
Q

Musty or mousey

A

Phenylketonuria

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12
Q

Tomcat urine

A

Multiple carboxylase deficiency

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13
Q

Glucocerebrosidase deficiency wth hepatosplenomegaly

A

Gauchers disease

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14
Q

Deficiency in copper dependent enzymes

X linked recessive

A

Menke’s disease

Kinky hair disease

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15
Q

Positive urine sulfatide test

Arylsulfatase A deficiency

A

Metalochromatic leukodystrophy

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16
Q

HGPRT deficiency

A

Lesch Nyhan syndrome

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17
Q

Glucose 6 phosphatase deficiency

Hypoglycemia and lactic acidosis

A

Von gierke’s disease

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18
Q

External ophthalmoplegia or frozen eyeball with retinitis pigmentosa

A

Kearns Sayre Syndrome

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19
Q

Most frequent mitochondrial disease in prenatal

A

Leigh encephalopaty

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20
Q

MC vasculitis in children

This affects small vessels

A

Henoch Schonlein Purpura

IGA and C3 deposition

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21
Q

Crash and Burn

A

Kawasaki disease

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22
Q

MC heart disease in Kawasaki

A

Coronary artery aneurysm

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23
Q

Vascukitis assoc with hepb infection

A

Panarteritis nodosa

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24
Q

Ataxia, nystagmus, kyphoscoliosid

Chromosome 9

A

Friedrich ataxia

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25
Q

Peroneal muscle atrophy with foort drop

PMP 22

A

Charcot Marie tooth syndrome

26
Q

Cerebellar hemangioblastom
Multiple congenital cystic kidney
Renal cell ca

A

Von hippel lindau disease

27
Q

Deletion of 5p short arm

Kitten cry

A

Cri du chat

28
Q

Deletion of chromosome 15

Paternal imprint

A

Prader willi syndrome

29
Q

Chromosome 15 deletion

Maternal

A

Angelman syndrome

30
Q

Intractable neonatal hypoglycemia
Macroglossia
Omphalocoele

A

Beckwith Wiedemann syndrome

31
Q

Soap bubble sign

Associated with cystic fibrosis

A

Meconium ileus

32
Q

MC congenital GI anomaly

A

Meckel diverticulum

33
Q

MC lower intestinal obstruction in children

A

Hirschprung disease

34
Q

Mc intestinal obstruction in 3 mos to 6 years

A

Intussusception

35
Q

Absent bowel sounds
Blood in stool
Pneumatosis intestinalis

A

Necrotizing enterocolotis

36
Q

Cerebral gigantism

A

Sotos syndrome

37
Q

Congenital hypoplastic bone marrow

Pure red cell aplasia

A

Diamond Blackfan syndrome

38
Q

Homer wright

Pseudorosettes

A

Neuroblastoma

39
Q

Chromosome defect in retinoblastoma

40
Q

MC gross hematuria in children

41
Q

MC hereditary nephritis

A

Alport syndrome

42
Q

Mc nephrosis in childhood

A

Idiopathic nephrotic syndrome

43
Q

Do not cross the midline

A

Wilmsbor nephroblastoma

44
Q

MC brain tumor

A

Pilocytic astrocytoma

Cerebellae

45
Q

AD with hypopigmented macules and patches + seizures

A

Tuberous sclerosis

Tuber- brain
Ash leaf lesion

46
Q

Facial nevi
Seizure
Hemiparesis

A

Sturg weber

47
Q

Serpentine or railroad track intracranial calcification

A

Sturge weber

48
Q

Motor tic
Vocal tic
OCD
ADHD

A

Gilles de la Tourette syndrome

49
Q

MCC chemical penumonitis in newborns with ball valve effect

A

Meconium aspiration syndrome

50
Q

Complication of MAS

A

Persistent pulmonary hypertension in newborn

51
Q

Patchy non homogenous opacities most in the midzone with segmental collapse or hyperaeration

52
Q

Osteomyelitis of frontal bone

A

Pott puffy tumor

53
Q

Tx of acute pharyngitis

A

Penicillin or amoxicillin

54
Q

Tx for sinusitis

A

Co amoxiclav or amoxicillin or cefuroxime

55
Q

Tx for retropharyngeal abscess

A

3rd gen cephalosporin
Ampi sulbactam
Clindamycin

56
Q

Prophylaxis for epiglottitis

A

Rifampicin

57
Q

Pneumonia with Ground glass appearance on xray

A

Chlamydia

Tx: erythromycin

58
Q

Initial BM response to iron treatment

59
Q

Reticulocytosis

60
Q

Increase hgb

61
Q

Repletion of stores

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