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