High Yield Flashcards

1
Q

associated with Chiari II Malformation

A

Myelomeningocele
(The negative pressure generated from drainage of CSF from the open mm results in the inferior displacement of the cerebellum)

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2
Q

MCC obstructive hydrocephalus

A

Post hemorrhagic (IVH)

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3
Q

MCC stroke

A

L middle cerebral artery (60% vs 20% R)

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4
Q

Hypotonia + cryptorchidism + poor feeding

A

Prader Willi

Paternal deletion of 15q11, Maternal uniparental disomy

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5
Q

MC type of CP in prematurity

A

Spastic diplegia

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6
Q

Majority of FT infants who develop CP have what kind of APGAR score?

A

Normal

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7
Q

MC genetic cause of hearing loss

A

Conexin 26 gene mutation

Genetic cause in 50% cases vs 25% acquired

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8
Q

MC Infectious cause of congenital cataracts

A

Rubella infection

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9
Q

MC form of brain injury in preterm infants

A

Diffuse PVL

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10
Q

Persistence of palmar grasp

A

Characteristic of athetoid CP

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11
Q

MC region of the brain affected by PVL

A

Periventricular white matter dorsolateral to the external angles of the lateral ventricles

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12
Q

MC craniosynostosis

A

Scaphocephlay or Dolicocephaly

premature closure of saggital suture

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13
Q

MCC conjunctivitis in the first month of life

A

Chlamydia

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14
Q

MCC of neonatal seizures

A

Global cerebral hypoxic ischemia (HIE)

Others: Focal cerebral hypoxic ischemia, cerebral dysgenesis and malformations, metabolic

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15
Q

Most cases of retinoblastoma are inherited or not?

A

Nonhereditary (usually unilateral)

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16
Q

Perianal dermatitis

A

Zinc deficiency

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17
Q

RTA associated with nephrocalcinosis

A

Type 1

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18
Q

Most frequent cause of acute renal failure in neonate

A

HIE

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19
Q

MC major congenital malformation in the US

A

NTD

20
Q

MC single gene disorder in caucasian population

A

CF

21
Q

MC inherited cause of mental deficiency

A

Fragile X

22
Q

MC genetic cause of short stature

A

Achondroplasia

23
Q

MC chromosomal deletion in humans

A

22q11.2 microdeletion

24
Q

MC disorder of skeletal development

A

OI

25
Q

MC type of congenital abnormality of the upper extremities

A

syndactyly

26
Q

MC nutritional deficiency leading to poor bone mineralization in premature infants

A

Phosphorous

27
Q

MCC abdominal mass

A

Hydronephrosis

28
Q

MCC Hydronephrosis

A

UPJ obstruction

29
Q

MC intrauterine infection worldwide

A

CMV

30
Q

MC teratogen

A

Alcohol

31
Q

MC area involved in ROP

A

Zone III

32
Q

MC injury in term HIE

A

Selective neuronal necrosis

deep nuclear structures of BG, thalamus, GP

33
Q

MC CP from HIE

A

Pyramidal CP –> Pseudobulbar and bulbar issues

34
Q

Most reliable way of diagnosing GERD

A

Impedance monitoring

35
Q

Major hormone for intrauterine growth

A

insulin

36
Q

MC preventable form of mental insufficiency

A

FAS

37
Q

MCC of asymmetric IUGR

A

uteroplacental insufficiency

38
Q

Predominant IGF expressed in tissues of embryos and fetuses

A

IFG-II

39
Q

MCC of obstructive uropathy

A

Posterior Urethral valves

In males

40
Q

MCC urinary tract dilation on antenatal ultrasoun

A

Transient/ physiologic

41
Q

Most common vascular tumor of infancy

A

Infantile hemangioma

42
Q

MC location of SIP

A

Terminal ileum

43
Q

MC hereditary hemolytic anemia among people of Northern European background

A

Hereditary spherocytosis (AD)

44
Q

MC inherited RBC enzyme defect

A

G6PD

45
Q

MCC neonatal thrombocytopenia

A

Infection

also MCC of thrombocytosis

46
Q

MC site of spontaneous neonatal thrombosis

A

Renal vein

47
Q

MC hemoglobinopathy in the world

A

Hemoglobin E