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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
Peroneal muscle atrophy with foort drop | PMP 22
Charcot Marie tooth syndrome
26
Cerebellar hemangioblastom Multiple congenital cystic kidney Renal cell ca
Von hippel lindau disease
27
Deletion of 5p short arm Kitten cry
Cri du chat
28
Deletion of chromosome 15 | Paternal imprint
Prader willi syndrome
29
Chromosome 15 deletion | Maternal
Angelman syndrome
30
Intractable neonatal hypoglycemia Macroglossia Omphalocoele
Beckwith Wiedemann syndrome
31
Soap bubble sign | Associated with cystic fibrosis
Meconium ileus
32
MC congenital GI anomaly
Meckel diverticulum
33
MC lower intestinal obstruction in children
Hirschprung disease
34
Mc intestinal obstruction in 3 mos to 6 years
Intussusception
35
Absent bowel sounds Blood in stool Pneumatosis intestinalis
Necrotizing enterocolotis
36
Cerebral gigantism
Sotos syndrome
37
Congenital hypoplastic bone marrow | Pure red cell aplasia
Diamond Blackfan syndrome
38
Homer wright | Pseudorosettes
Neuroblastoma
39
Chromosome defect in retinoblastoma
13
40
MC gross hematuria in children
IgA neph
41
MC hereditary nephritis
Alport syndrome
42
Mc nephrosis in childhood
Idiopathic nephrotic syndrome
43
Do not cross the midline
Wilmsbor nephroblastoma
44
MC brain tumor
Pilocytic astrocytoma | Cerebellae
45
AD with hypopigmented macules and patches + seizures
Tuberous sclerosis Tuber- brain Ash leaf lesion
46
Facial nevi Seizure Hemiparesis
Sturg weber
47
Serpentine or railroad track intracranial calcification
Sturge weber
48
Motor tic Vocal tic OCD ADHD
Gilles de la Tourette syndrome
49
MCC chemical penumonitis in newborns with ball valve effect
Meconium aspiration syndrome
50
Complication of MAS
Persistent pulmonary hypertension in newborn
51
Patchy non homogenous opacities most in the midzone with segmental collapse or hyperaeration
MAS
52
Osteomyelitis of frontal bone
Pott puffy tumor
53
Tx of acute pharyngitis
Penicillin or amoxicillin
54
Tx for sinusitis
Co amoxiclav or amoxicillin or cefuroxime
55
Tx for retropharyngeal abscess
3rd gen cephalosporin Ampi sulbactam Clindamycin
56
Prophylaxis for epiglottitis
Rifampicin
57
Pneumonia with Ground glass appearance on xray
Chlamydia Tx: erythromycin
58
Initial BM response to iron treatment
36-48 hrs
59
Reticulocytosis
48-72 hrs
60
Increase hgb
4-30 days
61
Repletion of stores
1-3 mos

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