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41 Cards in this Set
- Front
- Back
Define uniparental disomy
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Both members of a chromosome or gene pair are inherited from the same parent
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High AFP levels suggest what?
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fetal neural tube defects
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1) LOW AFP, LOW unconjugated estriol and HIGH B-HCG suggest what?
2) LOW AFP, LOW unconjugated estriol, and LOW B-HCG suggest what? |
1) Down's
2) Trisomy 18 |
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Which can be done earlier in the pregnancy - chorionic villus sampling or amniocentesis?
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CVS
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Name the syndrome:
1) Tall stature with very long fingers 2) Decreased upper to lower segment ratio 3) UPWARD lens subluxation 4) Aortic root dilation |
Marfan's - AD - mapped to chr 15 (fibrillin gene)
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Name the syndrome
1) Almond-shaped eyes and fishlike mouth 2) FTT early in life with obesity later in life 3) Short stature 4) Hypotonia in newborn period (poor suck) 5) Hypogonadism (microphallus, small testes) |
Prader-Willi (paternally derived chr 15)
Dx via FISH |
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Name the syndrome
1) Blonde hair/ blue eyes 2) Large mouth with small head 3) "Happy puppet" - jerky arm movement with paroxysms of inappropriate laughter 4) Severe mental retardation |
Angelmann syndrome (maternally derived chr 15)
Dx via FISH |
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Name the syndrome
1) Short stature and shield chest 2) Short webbed neck and low hairline 3) RIGHT-sided heart lesions (pulm valve stenosis) |
Noonan syndrome - AD (chromosome 12)
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Name the syndrome
1) Cardiac findings 2) Abnormal facies 3) THYMIC hypoplasia (immunodeficiency) 4) Cleft palate 5) PARATHYROID hypoplasia (low calcium) |
DiGeorge syndrome (deletion on chromosome 22 - AD)
Dx via FISH |
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Name the syndrome
1) Hyperextensible joints 2) Loose, fragile skin 3) Tissue paper-thin scars 4) Cardiac/GI findings |
Ehlers-Danlos syndrome (defective type V collagen - AD)
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Name the syndrome
1) Blue sclerae 2) Fragile bones 3) Yellow or gray-blue teeth 4) Easy bruisability 5) Early conductive hearing loss |
Osteogenesis imperfecta (abnormal type I collagen)
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What does VACTERL stand for?
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V - vertebral defects
A - anal atresia C - cardiac anomalies (VSD) TE - TE fistula R - renal defects L - limb defects |
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What does CHARGE stand for?
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C - colobomas (defect/absence of ocular tissue)
H - heart defects (tetralogy) A - atresia of chonae R - retardation G - genital anomalies (hypoplasia) E - ear anomalies (hearing loss) |
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Name the syndrome
1) "Cocktail party" personality 2) Elfin facies 3) Mental retardation 4) Supravalvular aortic stenosis 4) Idiopathic hypercalcemia 5) Connective tissue abnormalities (frequent hernias/hoarse voice) |
Williams syndrome - deletion on chromosome 7 (elastin) - AD
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Name the syndrome
1) Single eyebrow (UNIBROW) with microcephaly 2) Very short stature without skeletal abnormalities 3) Infantile hypertonia 4) Mental retardation 5) Small hands and feet 6) Cardiac defects 7) Behavioral findings |
Cornelia de Lange syndrome
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Name the syndrome
1) Short stature (small for gestational age) 2) Limb asymmetry 3) Normal head circumference 4) Small, triangular face 5) Cafe-au-lait spots 6) Excessive sweating |
Russell-Silver syndrome
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Name the syndrome
1) Micrognathia and macroglossia 2) Cleft life and palate 3) Recurrent otitis media and upper airway obstruction |
Pierre Robin syndrome
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Name the syndrome
1) Catlike cry 2) Slow browth and mental retardation |
Cri du chat syndrome (partial deletion of short arm of chr 5)
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Name the syndrome
1) Mental retardation and hypertonia with scissoring of lower extremities 2) Delicate, small facial features 3) Clenched hands with overlapping digits * 4) Rocker bottom feet * |
Trisomy 18 - most die within first ear
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Name the syndrome
1) Holoproencephaly with severe MR 2) Microphthalmia 3) Cleft lip and palate |
Trisomy 13 - associated with midline defects
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Name the syndrome
1) Short stature 2) Webbed neck 3) Shield chest (widely spaced nipples) 4) Swelling of dorsum of hands and feet 5) Ovarian dysgenesis - primary amenorrhea 6) LEFT-sided heart lesions (aortic coarctation) |
Turner syndrome (XO)
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Name the syndrome
1) MENTAL RETARDATION 2) Large ears and large testes |
Fragile X syndrome - caused by anticipation (CGG repeats) - more severe in males
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Name the syndrome - most common cause of male infertility
1) Tall stature with long extremities 2) Hypogonadism (small penis and testes) with delayed puberty 3) Gynecomastia 4) Variable intelligence |
Klinefelter syndrome - XXY
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Define the following
1) Rhizomelia 2) Mesomelia 3) Acromelia |
1) Proximal long bone abnormality
2) Median long bone abnormality 3) Distal abnormalities |
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Name the sydrome - most common skeletal dysplasia
1) Proximal long bone shortening (ortho problems) 2) Lumbar lordosis 3) Recurrent otitis media with conductive hearing loss 4) Megalencephaly with formaen magnum stenosis (can lead to hydrocephalus) |
Achondroplasia - AD
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Define potter syndrome
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Caused by severe oligohydraminos --> lung hypoplasia and Potter facies
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How do mitochondrial disorders generally present?
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As chronic and progressive disorders
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What is initial management of a child with an inborn error of metabolism?
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1) Provide source of energy - IV glucose
2) Remove offending agent 3) Correct acidosis (with sodium bicarb) and hyperammonemia (sodium benzoate/ sodium phenylacetate to increase NH3 extretion) |
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Child presents with an unusual odor. What are you worried about?
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Defects in amino acid meabolism
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Name the syndrome
1) Marfanoid body habitus with NORMAL sized digits 2) DOWNWARD lens subluxation 3) Hypercoag state 4) Cardiac defects - AI/MR 5) Scoliosis 6) Developmental delay |
Homocystinuria - AR - caused by cystathionine synthase deficiency
1) Dx - increased methionine in urine 2) Tx - methionine-restriced diet and ASA |
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Baby presents with recurrent renal stones. What are you worried about?
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Cystinuria - AR disorder caused by defect in renal reabsorption of cystine, lysine, arginine, and ornithine
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How do urea cycle defects manifest?
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Elevated NH3 - urea cycle is responsible for disposal of excess dietary nitrogen
1) NH3 is toxic to brain and liver 2) Sx include poor feeding, hyperventilation, seizures |
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Name the syndrome
Mom has started feeding her 6 month old baby chicken. Immediately after, she starts vomiting and goes into a coma |
Ornithine transcarbamylase deficiency - X-linked recessive
1) Sx begin at onset of protein ingestion 2) Tx - low protein diet and management of hyperammonemia |
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Name the syndrome
1) Newborn presents with HMS/hepatic dysfunction and hypoglycemia 2) Vomiting, diarrhea, and FTT 3) Cataracts with oil-droplet appearance 3) RTA |
Galactosemia - cannot metabolize galactose (in breast milk)
1) Dx - Nonglucose-reducing substance in urine (+ Clinitest) 2) Tx - galactose-free diet (only TRUE indication for SOY) 3) Great prognosis - normal intelligence |
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What are glycogen storage diseases characterized by?
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Organomegaly and metabolic acidosis
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When and how do fatty acid oxidation defects present?
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1) Present during acute illness or fasting
2) Develop nonketotic hypoglycemia, hyperammonemia, myopathy, and cardiomyopathy Medium chain acyl-CoA dehydrgenase is most common |
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Name the syndrome
1) Presentation in early infancy 2) Hyperacusis 3) Macrocephaly 4) Cherry-red macula 5) Severe developmental delay |
Infantile Tay-Sachs
1) Dx - decreased hexosaminidase A activity 2) Prognosis - untreatable |
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Name the syndrome
1) HMS and thrombocytopenia 2) Erlenmeyer flask-shape to distal femur |
Gaucher's disease - glucocerebrosidase deficiency
AR |
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Name the syndrome
1) Colicky abdominal pain - mimics acute abdomen 2) Autonomic instability 3) Neurologic findings |
Acute intermittent porphyrias
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Name the syndrome
1) Kayser-Fleischer rings 2) Ataxia/seizures/ personality changes 3) Hepatic dysfunction |
Wilson's disease (defect in copper excretion)
1) Dx - decreased serum ceruloplasmin with elevated serum Cu 2) Tx - avoid Cu-containing food and chelation therapy (oral penicillamine) |
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Name the sydrome
1) Myoclonic seizures 2) Pale, kinky friable hair |
Menkes kinky-hair syndrome
1) Dx - low serum ceruplasmin and copper |