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Flashcards in CBD Deck (61)
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1

CHD of Noonan syndrome

Pulmonary stenosis

2

Male phenotype of turner syndrome

Noonan syndrome

3

Earliest sign of congenital hypothyroidism

Prolonged jaundice

4

First clinical manifestation of CH

Growth delay

5

MC cause of hypothyroidism

Thyroid dysgenisis

6

MCC of thyroid disease in children

Thyroiditis

7

Swimming pool urine

Hawkinsunuria

8

Sweaty feet, acrid

Isovaleric acidemia

9

Maple syrup

MSUD

10

Boiled cabbage, rancid butter

Tyrosinemia

11

Musty or mousey

Phenylketonuria

12

Tomcat urine

Multiple carboxylase deficiency

13

Glucocerebrosidase deficiency wth hepatosplenomegaly

Gauchers disease

14

Deficiency in copper dependent enzymes
X linked recessive

Menke's disease
Kinky hair disease

15

Positive urine sulfatide test
Arylsulfatase A deficiency

Metalochromatic leukodystrophy

16

HGPRT deficiency

Lesch Nyhan syndrome

17

Glucose 6 phosphatase deficiency

Hypoglycemia and lactic acidosis

Von gierke's disease

18

External ophthalmoplegia or frozen eyeball with retinitis pigmentosa

Kearns Sayre Syndrome

19

Most frequent mitochondrial disease in prenatal

Leigh encephalopaty

20

MC vasculitis in children
This affects small vessels

Henoch Schonlein Purpura

IGA and C3 deposition

21

Crash and Burn

Kawasaki disease

22

MC heart disease in Kawasaki

Coronary artery aneurysm

23

Vascukitis assoc with hepb infection

Panarteritis nodosa

24

Ataxia, nystagmus, kyphoscoliosid
Chromosome 9

Friedrich ataxia

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