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Flashcards in peds11 Deck (50):
1

difference between malformation and deformation

deformation is caused by mechanical forces

2

when is cvs done? Amnio?

cvs at 10-13 weeks and amnio 16-18

3

marfan syndrome genetics

autosomal dominant, chrom 15 fibrillin

4

ocular findings in marfans

upward lens subluxation and retinal detachment

5

marfan syndrome looks similar to what, which should be screened for

homocysteinuria

6

prader willi genetics

absence of paternally derived part of chrom 15

7

almond shaped eyes and fishlike mouth

prader willi

8

weight in prader willi

initially FTT but then later gain weight due to polyphagia, however they have small stature with small hands and feet and hypogonadism

9

neuro features of prader willi

hypotonia and mental retardation

10

neuro findings in angelman

jerky arm movements, ataxia, and paroxysms of innaprop laghter, mental retardation

11

noonan syndrome

often called male version of turners, but females can be affected too

12

gene for noonan

chrom 12

13

skeletal findings in noonan

short stature and webbed neck

14

craniofacial findings in noonan

short webbed neck and low hairline

15

cardiac defect in noonan

right sided heart lesions, like pulm valve stenosis;

16

two diseases with deletion of 22q11

digeorge and velocardiofacial syndrome

17

clinical features of digeorge

cardiac findings, thymus and parathyroid hypoplasia causing cell-mediated immunodef and severe hypocalcemia; infections and seizures caused by hypocalcemia

18

veocardiofacial syndrome

craniofacial, cardiac, and neuro findings

19

ehlers-danlos

production of defective type V collagen

20

ehlers-danlos inheritance

autosomal dom

21

osteogenesis imperfecta

abnormal type I collagen

22

clinical features of OI

blue sclerae, fragile bones, yellow or gray-blue teeth, easy bruisability; early conductive hearing loss and skeletal deformities

23

VACTERL (VATER)

vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal defects, limb defects

24

CHARGE

colobomas (absence or defect in ocular tissue), heart defects, atresia of the nasal choanae, retardation, genital anomalies, ear anomalies

25

williams syndrome

cocktail party personality; deletion on chrom 7 that codes for elastin;

26

features of williams syndrome

elfin facies, mental retardation, supravalvular aortic stenosis, idiopthic hypercalcemia of infancy, connective tissue abnormalities

27

de Lange syndroem

single eyebrow and very short stature; microcephaly; infantile hypertonia, mental retardation; small hands and feet, cardiac defects; behavioral findings

28

russell-silver syndrome

short stature and skeletal assym with normal head circumfrence; SGA; small triangular face; cafe-au-lait spots on skin; excessive sweating

29

pierre-robin syndrome

micrognathia, cleft lip and palate, large tongue; complications include recurrent otitis media and upper airway obstruction that may require tracheostomy

30

cri du chat syndrome

caused by partial deletion of the short arm of chrom 5; catlike cry; slow growth, microcephaly, mental retardation, hypertelorism, downslanting palpebral fissues

31

second most common trisomy syndrome

trisomy 18

32

is trisomy 18 more common in males or females

3x more common in females

33

clinical features of trisomy 18

neuro (mental retardiaton and hypertonia with scissoring of lower extremities), delicate, small facial features; clenched hands with overlapping digits and rocker bottom feet

34

prognosis of trisomy 18 ids

95% die within the first year

35

craniofacial features of downs

brachycephaly, epicanthal skin folds, upslanting palpebral fissues, brushfield spots (speckled irides0, protruding tongue

36

MSK features of downs

hypotonia, clinodactyly, single palmar creases, wide space between first and second toes

37

GI features of downs

duodenal atresia, hirschsprung disease and omphalocele, pyloric stenosis

38

cardiac features of downs

endocardial cushion defects

39

complications of downs

atlantoaxial cervical spine instability; leukemia; celiac disease, early alzheimers, obstructive sleep apnea, conductive hearing loss, hypothyroidism, cataracts, glaucoma, and refractive errors

40

trisomy 13 clinical feautres

midline defects; holoprosencephaly, microcephaly, seizures, severe mental retardation; micropthalmia, cleft lip and palate; death within the first month of life

41

lymphedema in turners syndrome

causes swelling of the dorsum of hands and feet

42

cardiac defects in turners

are left sided; especially coarctation of the aorta, bicuspid aortic valve, and hypoplastic left heart

43

genetics of fragile X syndrome/

variable number of CGG repeats on chrom X; increase in number of repeats as massed from generation to generation\

44

most common cause of heritable mental retardation

fragile x

45

clinical features of fragile x

mild to severe mental retardation; large ears, macrocephaly, large testes, behavioral findings

46

most common cause of male hypogonadism and infertility

klinefelters

47

chromosomes for klinefelters

xxy

48

clinical features of klinefelters

tall stature with long extremities; hypogonadism and delayed puberty; gynecomastia; variable intelligence; behavioral findins

49

skeletal dysplasia

short stature caused by bone growth abnormalities;

50

rhizomelia

proximal long bone abnormalities (humerus and femur)