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66 Cards in this Set

  • Front
  • Back
Define Malformation.
intrinsically abnormal process forms abnormal tissue
Define Deformation.
Mechanical forces cause normal to abnormal
Define Disruption.
Normal tissue becomes abnormal after being subjected to destructive forces (i.e. ischemia)
Define Syndrome.
Collection of seemingly unrelated abnormal features occur in a familiar pattern
Elevated Alpha Fetoprotein?
NTD, multiple gestations, underestimated gestational age, ventral Abdominal wall defect
Low Alpha Fetoprotein?
overestimated gestational age, Trisomy 21 and 18, IUGR
Describe Triple Marker in down's
low AFP, low unconj. estriol, high B-HCG
Describe Triple Marker in Trisomy 18.
all 3 low
When can CVS be done?
10-13 weeks
When can Amniocentesis be done?
16-18 weeks
Auto Dom defect on Chrom 15/fibrillin with decreased upper to lower segment ratio
Marfan Syndrome
Cardio Finding in Marfan's
Aortic Root Dilatation
Often Confused with marfan's and should be R/O
How do you decrease the risk of dissection in Marfan's?
B-Blockers and avoid contact sports
Obese child with almond like eyes and fishlike mouth, often MR and hypogonadism
Prader Willi syndrome (Chr 15)
Male version of Turner's with right sided heart defects and pulmonary valve stenosis
Noonan Syndrome (Chr 12)
Describe Digeorge Syndrome
CATCH-22: cardiac abn, abn facies, thymic hypoplasia, cleft palate, hypocalcemia, microdel 22
Defective Type V collagen, hyperextensible joints, with minor lacerations that result in large wounds
Ehlers-Danlos syndrome
Abnormal type 1 collagen, blue sclerae, fragile bones, easily bruised, early conductive hearing loss
Describe VACTERL.
Vertebral defect, anal atresia, cardiac anomalies (VSDs), TracheoEsophageal fistula, renal defects and Limb defects
Describe CHARGE.
Colobomas, heart defect, atresia of the nasal choanae, retardation of growth and cognition, genital anomalies, ear anomalies
Cocktail party elf with MR and loquacious, often with supravalvular AS and idiopathic hypercalcemia
Williams Syndrome
Single Eyebrow, Microcephaly, FTT, MR, hypotonia
Cornelia de Lange Syndrome
Micrognatia, cleft lip and palate, recurrent OM, and upper airway obstruction
Pierre Robin Syndrome
MR with scissoring of LE and rocker bottom feet and overlapping digits
Edwards Trisomy 18
Holoprosencephaly, MR, micropthalmia, cleft lip and palate
Patau Trisomy 13
T/F - Turner syndrome should be considered in any female with pubertal delay
Most common inherited cause of MR
FRagile X Syndrome
Large ears, blue irides, MR, large testes
Fragile X
Most common cause of male hypogonadism and infertility
Klinefelter syndrome
T/F - most cases of achondroplasia are sporadic
Serious complication of Achondroplasia
Foramen Magnum Stenosis
Severe Oligohydraminos can cause lung hypoplasia nd fetal compression with limb and facial abnormalities known as
Potter syndrome
Most common congenital anomaly of the CNS
Mousey musty odor
Sweaty feet
isovaleric or glutaric acidemia
Rotten cabbage
Herediatar tyrosinemia
Hypoglycemia with ketosis suggests?
organic acidemias and carb dz
Serum NH3 > 200mM suggests?
Urea Cycle Defect
Elevated NH3 AND metabolic Acidosis suggests?
Organic Acidemia
Initial Lab Evaluation in IBEM?
1) Serum Glucose, Ca, Mg
2) CBC with Diff
3) U/A (ketones?)
4) Serum Ammonia
5) ABG & Serum Electrolytes(metabolic acidosis)
6) Urine reducing substance
Treatment of suspected IBEM.
1) IV glucose
2) Prevent exposure (protein, lipid, etc)
3) correct acidosis with Na bicarb
4) correct hyperammonemia with Na benzoate/Na phenylacetate
5) dialysis if necessary
What to look for in labs of Maple Syrup Urine Dz?
Branched Chain AA's
What to look for in labs of Tyrosinemia?
Succinylacetone in urine
T/F - Beware aortic dilatation in Marfan's and Homocystinuria.
False - no in homo
What to look for in labs of Homocystinuria?
increased methinonine in urine
Cystinuria is AutoRec caused by defect in absorption of (4) that lead to renal stones.
cystine, lysine, arginine, ornithine
AutoRec dz caused by defect in transport of neutral amino acids. Most patients are asymptomatic
Hartnup Disease
Most common urea cycle defect? Inheritance?
Ornithine transcarbamylase deficiency, x linked
This disorder should be suspected in any newborn with hepatomegaly and hypoglycemia
Vomiting, diarrhea, FTT, hepatomegaly, RTA, cataracts with oil-droplet appearance
T/F - nearly all females suffer from ovarian failure in galactosemia
Von Gierke's Dz or G6phosph. Deficiency are at higher risk of _
hepatocellular carcinonma
Pompe's dz is caused by
alpha glucosidase deficiency
Most common Fatty acid oxidation disorder
medium chain acyl coA dehydrogenase
Hexosaminidase A deficiency, hyperacusis, macrocephaly
Glucoccerebrosidase deficiency, Erlenmeyer flask shape to distal femur, HSM
Gaucher's Dz
Sphingomyelinase deficiency, cherry red macula
Niemann-Pick Dz
Neurodegenerative disorder caused by arylsulfatase A deficiency
Metachromatic Leukodystrophy
alpha L iduronidase defeicency, Auto Rec, progressive coarse face with corneal clouding; Diagnosis by?
Hurler Syndrome via dermatan and heparan sulfates in urine
X linked MPS with no eye involvement
Hunter's Syndrome
T/F - Morquio syndrome is a MPS disorder that is not associated with MR.
Treatment of Porphyrias.
1) IV glucose
2) correct Electrolytes
3) avoid fasting and preciptants
Kayser-Fleischer rings, ataxia, hepatic dysfunction
Wilson's Dz
Screening test for Wilson's
Serum ceruloplasmin (decreased)
Treatment of Wilson's
1) avoid copper foods
2) chelation therapy with penicillamine
3) worst liver Tx