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