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Flashcards in peds14 Deck (50):
1

mesomelia

medial long bone abnormalities (ulna and tibia)

2

acromelia

distal abnormalities (small hands and feet)

3

spondylodysplasia

abnormalities of the spine, with or without limb abnormalities

4

most common skeletal dysplasi

achondrolasia

5

achondroplasia is what?

rhizomelia; inheritance is AD, but most cases are sporatic; caused by mutation in the FGFR 3 gene

6

clinical features of achondroplasia

craniofacial include megalencephaly (large brain), foramen magnum stenosis, frontal bossing, midface hypoplasia, and low nasal bridge

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skeletal findings in achondroplasia

lumbar kyphosis that evolves into lumbar lordosis; rhizomelic lmb shortening; trident shaped hands; recurrent otitis media w conductive hearing loss

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complications of achondroplasia

foramen magnum stenosis may lead to hydrocephalus or cord compression; SIDS may occur as a result of cord compression; obstructive sleep apnea; severe bowed legs and back pain

9

potter syndrome

caused by severe oligohydramnios which causes lung hypoplasia and fetal compression with limb abnormalities and facial features

10

amniotic band syndrome

aka amnion rupture sequence; occurs as a result of rupture of amniotic sac; small strands from the amnion may wrap around the fetus causing limb scarring and amputation

11

fetal alcohol syndrome

SGA, FTT, microcephaly, long smooth philtrum with a thin, smooth upper lip; ADHD; mental retardation, and cardiac defects (VSD most common)

12

fetal phenytoin syndrome

mental retardation; cardiac defects, growth retard, nail and digit abnormalities; characteristic facial features

13

anomalies associated with cigarette smoking

SGA, polycythemia

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anomalies assoc with cocain

IUGR, microcephaly, GU abnormalities

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abnormalities assoc with DES

cervical cancer, GU abnormalities

16

isotretinoin- abnormalities assoc with

CNS issues, cardiac issues, thymic hypoplasia

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phenytoin-associated abnormalities

wider anterior fontanelle; thick hair with low hairline; small nails, cardiac defect

18

PTU associated with what defects

hypothyroidism, goiter

19

Thalidomide associated with

phocomelia (malformed extremities resulting in flipper like appendages)

20

valproic acid

narrow head, high forehead, midface hypoplasia, spina bifida, cardiac defects, convex nails

21

warfarin

hypoplastic nose with a deep goroove between the nasal alaeand the nasal tip, stippling of the epiphyses

22

chronic progressive symptoms (in a baby with IEM) points to what?

mitochondrial disorders

23

presenting symptoms of IEM might be similar to what?

sepsis

24

initial lab eval for suspected IEM

assessment for metabolic acidosis and elevated serum ammonia

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FAO defect, then avoid what?

lipids

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how to correct acidosis?

sodium bicarb

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how to correct hyperammonemia?

sodium benzoate and sodium phenylacetate increase ammonia excretion

28

oral neosporin and lactulose

prevent bacterial production of ammonia in the colon

29

if all else fails, how do you correct electrolyte abnormalities?

dialysis

30

mousy/musty odeor

phenylketonuria (PKU)

31

sweet maple syrup odor

maple syrup urine disease

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sweaty feet odor

isovaleric or glutaric acidemia

33

rotten cabbage odor

hereditary tyrosinemia

34

presence of ketones in the urine of newborns

is very suspicious for IEM because normally newborns do not make ketones very well

35

absence of ketones in the urine of older children

absence of ketones and hypoglycemia is suspicious for FAO defect

36

if urine reducing substance is positive, then what?

dipstick for glucose; if glucose neg, then possibly galactosemia

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if metabolic acidosis is presnt, what tests do you run

serum lactat and pyruvate looking for lactic acidemia or organic acidemia; also check for plasma Aas to rule or aminoacidemias or organic acidemias

38

if incr ammonia is present, what labs do you run?

plasma Aas and urine organic acids (if elevated orotic acid, suspect OTC def)

39

homocysteinuria caused by defect in what

cystathionine synthase

40

clinical features of homocysteinuria

marfanoid body habitus without arachnodactyly; downward lens subluxation (as opposed to up in marfans); hypercoaguable; CV abnormalities; scoliosis, developmental delay

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how to dx homocysteinuria

increased methionine in urine and plasma or pos urinary cyanid e nitroprusside test

42

management of homocystienuria

methionine restricted diet, aspirin, and folic acid and vit B6 supp

43

transient tyrosinemia of the newborn

occurs in premature infants w high protein diets; poor feeding or lethargy

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dx of transient tyrosinemia of the newborn

elevated serum tyrosine and phenylalanine

45

management of transient tyrosinemia of the new born

decreasing protein intake during the acute episode; vit C may help elminiate tyrosine

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prognosis of transient tyrosinemia of the newborn

good; self-limited disease that resolves within 1 month

47

cystinuria

defect in renal reabsoption of cstine, lysine, arginine, and ornithine that leads to renal stones;

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clinical features of cystinuria

UTI, dysuria, abdominal or back pain, urgency and urinary frequency

49

Hartnup disease

defect in transport of neutral Aas; most are asymptomatic

50

urea cycle defects manifested ow?

elevated ammonia over 200 micromolar