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Flashcards in BRS- Metabolism Deck (116)
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1

____ diseases are only seen in males.
____ are more severe in males.

XR- only males
XD- more severe in males

2

Gene pair inherited entirely from the same parent is called ____?

uniparental disomy

3

Gene defect expressed solely based on the sex of the parent passing on the defective gene

genomic imprinting

4

Chromosome deleted in both Prader Willi and Angelmans

chromosome 15, 11q

5

Three abnormalities of morphogenesis

-intrinsic abnormality ?
-mechanical forces?
-destructive forces?

-intrinsic: malformation
-mechanical: deformation
-destructive: disruption

6

Two causes of low AFP

-trisomy
-overestimated GA

7

Causes of high AFP:

-NTD
-MFG
-underestimated GA
-abdominal wall defect
-edema/skin abnormality

8

Triple mark screen levels in Down Syndrome?

-low AFP, estriol
-High hCG

9

At what time in pregnancy are CVS and Amniocentesis performed?

-CVS: 10-13 weeks
-Amniocentesis: 16-18 weeks

10

Marfans:
-inheritance pattern
-chromosome
-gene

-AD
-chromosome 15
-fibrillin

11

Marfans:
skeletal findings

-tall
-long fingers
-decreased U/L segment ratio

12

Marfans:
most common cardiac and ocular findings

-upward lens subluxation
-aortic root dilatation

13

Management of Marfans:

-Bbers + sport avoidance to prevent aortic dissection
-endocarditis prophylaxis
-ophthalmic exams

14

Physical appearance of Prader Willis

-FTT --> short + obese
-fish mouth, almond eyes

15

Prader Willis Neuro effects

-retardation
-hypotonia
-learning/behavior disorder

16

GU abnormalities assc with Prader Willis

-small penis/testis
-hypogonadism
+/- cryptorchidism

17

Into late childhood/ adulthood, what complications are assc with Prader Willis?

-OSA
-CVD
-DM2

18

Angelman Syndrome neuro features

-jerky movements, ataxia
-inappropriate laughter
-mental retardation

19

Angelman Syndrome physical appearance

-small head/ big mouth
-blond hair/ blue eyes

20

Male version of Turners Syndrome? _____
Assc chromosome _____

Noonans
chromosome 12

21

Appearance of Noonans patient

-short, webbed neck
-shield chest
-low hairline
-hypertelorism

22

Two heart defects assc with Noonans

-right sided lesions
-pulm stenosis

23

Two disorders assc with chromosome 22q11

-DiGeorge
-velocardiofacial syndrome

24

What does CATCH 22 stand for?

-cardiac anomaly
-abnormal face
-thymic hypoplasia
-cleft palate
-hypocalcemia
-22 chromosome

25

Describe thymic abnormalities seen in DiGeorge

-no thymus/parathyroid=
immunodeficiency, hypocalcemia

26

Complication assc with hypocalcemia

-tetany
-seziures

27

Cardiac effect assc with velocardiofacial syndrome

-VSD
-right sided arch

28

Neuro findings in velocardiofacial syndrome

-hypotonia
-perseverative behavior

29

Collagen type assc with Ehlers Danlos? OI?

-ED: type V
-OI: type I

30

ED:
skin & joint findings

-skin and joint hypermobility
-tissue paper thin scarring