peds11

Question 1

difference between malformation and deformation

Answer 1

deformation is caused by mechanical forces

Question 2

when is cvs done? Amnio?

Answer 2

cvs at 10-13 weeks and amnio 16-18

Question 3

marfan syndrome genetics

Answer 3

autosomal dominant, chrom 15 fibrillin

Question 4

ocular findings in marfans

Answer 4

upward lens subluxation and retinal detachment

Question 5

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

Answer 5

homocysteinuria

Question 6

prader willi genetics

Answer 6

absence of paternally derived part of chrom 15

Question 7

almond shaped eyes and fishlike mouth

Answer 7

prader willi

Question 8

weight in prader willi

Answer 8

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

Question 9

neuro features of prader willi

Answer 9

hypotonia and mental retardation

Question 10

neuro findings in angelman

Answer 10

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

Question 11

noonan syndrome

Answer 11

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

Question 12

gene for noonan

Answer 12

chrom 12

Question 13

skeletal findings in noonan

Answer 13

short stature and webbed neck

Question 14

craniofacial findings in noonan

Answer 14

short webbed neck and low hairline

Question 15

cardiac defect in noonan

Answer 15

right sided heart lesions, like pulm valve stenosis;

Question 16

two diseases with deletion of 22q11

Answer 16

digeorge and velocardiofacial syndrome

Question 17

clinical features of digeorge

Answer 17

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

Question 18

veocardiofacial syndrome

Answer 18

craniofacial, cardiac, and neuro findings

Question 19

ehlers-danlos

Answer 19

production of defective type V collagen

Question 20

ehlers-danlos inheritance

Answer 20

autosomal dom

Question 21

osteogenesis imperfecta

Answer 21

abnormal type I collagen

Question 22

clinical features of OI

Answer 22

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

Question 23

VACTERL (VATER)

Answer 23

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

Question 24

CHARGE

Answer 24

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

Question 25

williams syndrome

Answer 25

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

Question 26

features of williams syndrome

Answer 26

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

Question 27

de Lange syndroem

Answer 27

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

Question 28

russell-silver syndrome

Answer 28

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

Question 29

pierre-robin syndrome

Answer 29

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

Question 30

cri du chat syndrome

Answer 30

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

Question 31

second most common trisomy syndrome

Answer 31

trisomy 18

Question 32

is trisomy 18 more common in males or females

Answer 32

3x more common in females

Question 33

clinical features of trisomy 18

Answer 33

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

Question 34

prognosis of trisomy 18 ids

Answer 34

95% die within the first year

Question 35

craniofacial features of downs

Answer 35

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

Question 36

MSK features of downs

Answer 36

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

Question 37

GI features of downs

Answer 37

duodenal atresia, hirschsprung disease and omphalocele, pyloric stenosis

Question 38

cardiac features of downs

Answer 38

endocardial cushion defects

Question 39

complications of downs

Answer 39

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

Question 40

trisomy 13 clinical feautres

Answer 40

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

Question 41

lymphedema in turners syndrome

Answer 41

causes swelling of the dorsum of hands and feet

Question 42

cardiac defects in turners

Answer 42

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

Question 43

genetics of fragile X syndrome/

Answer 43

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

Question 44

most common cause of heritable mental retardation

Answer 44

fragile x

Question 45

clinical features of fragile x

Answer 45

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

Question 46

most common cause of male hypogonadism and infertility

Answer 46

klinefelters

Question 47

chromosomes for klinefelters

Answer 47

xxy

Question 48

clinical features of klinefelters

Answer 48

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

Question 49

skeletal dysplasia

Answer 49

short stature caused by bone growth abnormalities;

Question 50

rhizomelia

Answer 50

proximal long bone abnormalities (humerus and femur)