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31 Cards in this Set
- Front
- Back
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Trisonomy 21 disorder
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Down Syndrome
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What are the 2 causes of Down syndrome?
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Chromosomal disorder
Maternal age |
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Small head with flat facial features
Slanted eyes Single crease in palm of hand Heart defects, leukemia, dermatitis Decreased IQ and speech |
Down syndrome
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How do you test for in-utero Down syndrome
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Amniocentisis
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XXY
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Klinefelter syndrome
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Both male and female sexual characteristics, low levels of ______hormone. less hair, gynecomastia, infertility.
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Klinefelter syndrome
Testosterone |
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X gene only
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Turner syndrome
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Abnormally large growth due to an excess of growth hormone during childhood, before the bone growth plates have closed.
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Gigantism
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A chronic metabolic disorder in which there is too much growth hormone and the body tissues gradually enlarge.
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Acromegaly
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What is the cause for both gigantism and acromegaly?
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Pituitary adenoma
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A hyperglycemic patient with enlarged organs and structures.
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Gigantism/Acromegaly
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What causes hyperglycemia in a patient with acromegaly?
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Increased hepatic glucose output and/or GH impairment of insulin action
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An idiopathic cause leading to uneven testicular height, empty scrodum, making them at risk for______.
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Cryptoorchidism
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Congenital urethral opening is at the top side of the penis
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Epispadias
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Congenital urethral opening is at the underside of the penis
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Hypospadias
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Abnormal stream during urination
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Hypo/epispadias
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Kidney's with fluid filled cysts
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Polycystic Kidney Disease (PCKD)
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PCKD
Autosomal dominant: onset in _______ Autosomal recessive: onset in ______ |
Dominant: adults
Recessive: kids |
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HTN, pain, abdominal or back mass, hematuria, frequent kidney infections...disease?
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PCKD
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Those with PCKD are at a higher risk for what 3 conditions?
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Cerebral aneurysms
Mitral valve prolapse Diverticulosis |
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Painful outpouches in the lining of the colon
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Diverticulosis
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Outpouches in the lining of the colon
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Diverticulosis
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HbS vs HbA
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Sickle Cell Anemia
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Autosomal recessive RBC disorder
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Sickle Cell Anemia
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Abdominal pain, bone pain, ulcerations, thrombi, infarcts
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Sickle Cell Anemia
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Jaundice and hematuria
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Hemolytic crisis
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Name the three crises of Sickle Cell Anemia.
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Hemolytic crisis
Splenic sequestration crisis Aplastic crisis |
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Lateral curvature of the spine caused by congenital, and cerebral palsy.
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Scoliosis
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Ventricular spetal defect
Aortic transposition Pulmonary stenosis R ventricular hypertrophy |
Tetralogy of fallot
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Congenital hear defect transposition of the great vessels
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Tetralogy of Fallot
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Cyanosis, difficulty feeding, failure to thrive, clubbing, sudden death
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Tetralogy of Fallot
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