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114 Cards in this Set

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Common congenital malformations
Heart defects
Hypospadias
Cleft lip
Congenital hip dislocation
Spina bifida
Anencephaly
Pyloric stenosis
Congenital malformation associated with projectile vomitting
Pyloric stenosis
Right to left shunts (early cyanosis) blue babies - name 3 causes
3 T's
Tetralogy of Fallot
Transposition of great vessels
Truncus arteriosus
Child may squat to increase venous return - what type of shunt?
Right to left
Left to right shunts (late cyanosis) - blue kids - name 3 causes
VSD
ASD
PDA
Close with indomethacin
PDA
Most common congenital cardiac anomaly
VSD
Loud S1, wide, split, fixed S2
ASD
Uncorrected VSD, ASD or PDA leads to progressive pulmonary hypertension. As pulmonary resistance increases shunt changes from Lto R to R to L which causes late cyanosis (clubbing and polycythemia)

Diagnosis
Eisenmengers syndrome
Name 4 parts of tetralogy of Fallot
PROVe

Pulmonary stenosis
Right ventricular hypertrophy
Overriding aorta
VSD
What do you see on xray in patient with tetralogy of Fallot
Boot shaped heart due to RVH
Cause of tetralogy of Fallot
Anterosuperior displacement of infundibular septum
Patient suffers from "cyanotic spells", x ray shows boot shaped heart - diagnosis?
Tetraology of Fallot
Aorta leaves RV (anterior) and pulmonary trunk leaves LV (posterior) --> separation of systemic and pulmonary circulation. Not compatible with life unless a shunt is present to allow adequate mixing of blood (VSD, PDA or patent foramen ovale)

Diagnosis?
Transposition of great vessels
Cause of transposition of great vessels
Failure of aorticopulmonary septum to spiral
Prognosis for transposition of great vessels
Without surgical correction infants die within 1st month of life
In infantile type of coarctation of aorta - aortic stenosis is proximal or distal to insertion of ductus arteriosus?
Proximal (preductal)
INfantile = IN close to heart
In adult type of coarctation of aorta stenosis is distal or proximal to ductus arteriosus
Distal (postductal)

ADult= Distal to Ductus
This condition is associated with notching of ribs, hypertension in upper extremities and weak pulses in lower extremities
Coarctation of aorta
What should you check in physical exam if suspect coarctation of aorta
Femoral pulses
Male to female ratio for coarctation of aort
3:1
In fetal period shunt is right to left (normal). In neonatal period, lung resistance decreases and shunt becomes left to right with subsequent RVH and failure (abnormal). Associated with a continuous "machine like" murmur - Name condition
Patent ductus arteriosus
Patency of ductus arteriosus is maintained by?
PGE synthesis and low O2 tension
What drug is used to close PDA
Indomethacin
Name drug used to keep PDA open which may be necessary to sustain life in conditions such as transposition of great vessels
PGE
Name defect associated with 22q11 syndromes
Truncus arteriosus, tetralogy of Fallot
Name congenital cardiac defect associated with Down syndrome
ASD
VSD
Name congenital cardiac defect associated with congenital rubella
Septal defects
PDA
Name congenital cardiac defect associated with Turners syndrome
Coarctation of aorta
Name congenital cardiac defect associated with offspring of a diabetic mother
Transposition of great vessels
Most common chromosomal disorder and cause of congenital mental retardation
Down syndrome
GI defect associated with Downs
Duodenal atresia
Which cancer is in increased risk for patients with Downs
ALL
Most common cardiac malformation in patients with Downs - cause?
Septum primum type ASD due to endocardial cushion defects
Decreased levels of alpha fetoprotein
Increased beta HCG
Increased nuchal translucency - diagnosis
Downs
Mental retardation, flat facial profile, prominent epicantal folds, simian crease - diagnosis?
Downs trisomy 21
95% of Downs are caused by _

4% ?

1%
Nondisjunction

4% - Robertsonian translocation

1% - mosaicism
Edwards syndrome is also called?
Trisomy 18 (Election age)
Baby is born with severe mental retardation, rocker bottom feet, low set ears, micrognathia (small jaw), congenital heart disease, clenched hands and prominent occiput- diagnosis + prognosis
Edwards syndrome - trisomy 18

Death within 1 year
Pataus syndrome is also called
Trisomy 13
Baby is born with severe mental retardation, microphthalmia, cleft lip/palate, abnormal forebrain structures, polydactyly, congenital heart disease - diagnosis + prognosis
Pataus trisomy 13

Death within 1 year
Klinefelters genotype
XXY
Testicular atrophy, eunuchoid body shape, tall, long extremities, gynecomastia, female hair distribution, presence of inactivated X chromosome (Barr body)
Klinefelter syndrome
Common cause of hypogonadism see in infertility workup
Klinefelter syndrome
Genotype for Turners syndrome
XO
Short stature, ovarian dysgenesis (streak ovary), webbing of neck, coarctation of aorta, no Barr body
Turners
Most common cause of primary amenorrhea
Turners
Phenotypically normal, very tall, severe acne, antisocial behavior, observed with increased freuency among inmates of penal institutions
Double Y males XYY
What type of mutation is Duschennes
Frameshift mutation --> deletion of dystrophin gene --> accelerated muscle breakdown
Inheritance for Duschennes
X linked
Where does weakness begins in patients with Duschennes
Pelvic girdle and moves superiorly
5 year old male presents with pseudohypertrophy of calf muscles and cardiac myopathy - name condition and cause
Duschennes - replacement of muscle by fibrofatty tissue
7 year old male requires assistance of the upper extremities to stand up (proximal lower limb weakness) - name phenomenon and condition
Gowers maneuver - Duschennes muscular dystrophy
How do you diagnose muscular dystrophies
By increased CPK and muscle biopsy
Disagreement between phenotypic (external genitalia) and gonadal (testes vs ovaries) sex
Pseudohermaphroditism
Ovaries are present but external genitalia are virilized or ambiguous - name condition + cause
Female pseudohermaphroditism

Due to excessive and inappropriate exposure to androgenic steroids during early gestation (congenital adrenal hyperplasia or exogenous administration of androgens during pregnancy)
Testes present but external genitalia are female or ambiguous - name condition + cause
Male pseudohermaphroditism - androgen insensitivity syndrome (testicular feminization)
Both ovary and testicular tissue present, ambiguous genitalia - very rare

Possible genotypes?
True hermaphrodite

46 XX or 47 XXY
Defect in androgen receptor resulting in normal appearing female, female external genitalia with rudimentary vagina, uterus and uterine tubes are absent. develops testicular tissue(often found in labia majora, surgically removed to prevent malignancy)

Name condition + genotype + what happens to levels of estrogen, testosterone and LH
Androgen insensitivity syndrome

46 XY

Levels of testosterone, estrogen and LH are all high
Unale to convert testosterone to DHT, ambiguous genitalia until puberty, when increased testosterone causes masculinization of genitalia

Name condition + what happens to levels of estrogen, testosterone and LH
5 alpha-reductase defficiency

Testosterone and estrogen levels are normal, LH normal or increased
Congenital deletion of short arm of chromosome 5 leads to _
Cri-du-chat syndrome
Microcephaly, severe mental retardation, high pitched crying/meowing, epicanthal folds, cardiac abnormalities
Cri-du-chat syndrome
2nd most common cause of genetic mental retardation
Fragile X
X linked defect affecting methylation and expression of FMR1 gene, associated with macro-orchidism (enlarged testes), long face with large jaw, large everted ears and autism
Fragile X
What type of mutation is in Fragile X
Triple repeat disorder (CGG) that may show genetic anticipation (germlike expansion in females)
Cleft palate
Abnormal facies
Thymic aplasia
Cardiac defects
Hypocalcemia

2 types of disorders
22q11 syndromes - DiGeorge syndrome (thymic, parathyroid and cardiac defects) or velocardiofacial syndrome (palate, facial and cardiac defects)
Adult polycystic kidney disease - unilateral or bilateral
ALWAYS bilateral
Patient presents with pain, hematuria, hypertension, progressive renal failure, 90% of mutations are due to mutation in APKD1 (chromosome 16)
Adult polycystic kidney disease - massive enlargement of kidneys due to multiple large cysts
Name conditions associated with adult polycystic kidney disease
Polycystic liver disease
BERRY ANEURYSMS
Mitral valve prolapse
What is the inheritance for adult form of polycystic kidney disease?

juvenile?
Adult - autosomal dominant

Juvenile - autosomal recessive
Patient has high cholesterol (heterozygotes 300, homozygotes - rare- 700), severe atherosclerotic disease early in life and tendon xanthomas (classically in Achilles tendon), MI may develop before age 20

Name disease and cause
Familial hypercholesterolemia (hyperlipidemia type IIa)

Elevated LDL owing to defective or absent LDL receptor
Cause of Marfans disease
Fibrillin gene mutation -> connective tissue disorders
Skeletal abnormalities in Marfans syndrome
Tall with long extremities, hyperextensive joints, and long, tapering fingers and toes
Cardiovascular abnormalities in Marfans syndrome
Cystic medial necrosis of aorta --> aortic incometence and dissecting aortic aneurysms

Floppy mitral valve
Occular abnormality in Marfans syndrome
Subluxation of the lens
Findings in neurofibromatosis type I (von Riecklinghausen disease)
Cafe-au-lait spots
Neural tumors
Lisch nodules (pigmented iris hamartomas)

Also marked by skeletal disorders (scoliosis) and increased tumor susceptibility
Gene coding for NFT type I (von Riecklinghausen disease) located where?
Long arm of chromosome 17 (17 letters in Recklinghausen)
Gene coding for NFT type II is located where?
On chromosome 22
Patient presents with bilateral acoustic neuromas, optic pathway gliomas, juvenile cataracts - diagnosis?
Type II NFT
Findings: facial lesions (adenoma sebaceum), hypopigmented "ash leaf spots" on skin, cortical and retinal hamartomas, seizures, mental retardation, renal cysts, cardiac rhabdomyomas. Incomplete penetrance, variable presentation
Tuberous sclerosis
Findings: hemangioblastomas of retina/cerebellum/medulla, about half of affected individuals develop multiple bilateral renal cell carcinomas and other tumors - name disease, which gene affected and inheritance
Von Hippel Lindau disease

Deletion of VHL gene (tumor suppressor) on chromosome 3 (3p)

Autosomal dominant
Findings - depression, progressive dementia, choreiform movements, caudate atrophy and decreased levels of GABA and Ach in brain, symptoms manifest between 20 and 50 - name disorder, what type of disorder, inheritance + which chromosome affected
Huntingtons

Triplet repeat disorder

Autosomal dominant

Gene on chromosome 4
Colon becomes covered wiith adenomatous polyps after puberty. Progresses to cancer unless resected - name disease and chromosome on which deletion occurs+ inheritance pattern
Familial adenomatous polyposis - deletion on chromosome 5, autosomal dominant
Spheroid erythrocytes, hemolytic anemia, increased MCHC - name disease + what is curative + inheritance pattern
Hereditary spherocytosis

Splenectomy is curative

Autosomal dominant
Autosomal dominant cell-signalng defect of fibroblast growth factor (FGF) receptor 3. Results in dwarfism, short limbs but head and trunk are normal size - name disease
Achondroplasia
Inheritance pattern for cystic fibrosis
Autosomal recessive
Inheritance pattern for albinism
Autosomal recessive
Inheritance pattern for alpha1-antitrypsin defficiency
AR
Inheritance pattern for PKU
AR
Inheritance pattern for thalassemias and sickle cell anemias
AR
Inheritance pattern for glycogen storage disorders
AR
Inheritance pattern for mucopolysaccharidoses - ?

EXCEPT - >
AR

EXCEPT Hunters
Inheritance pattern for sphingolipidoses- ?

EXCEPT- ?
AR

EXCEPT Fabrys
Inheritance pattern for infant polycystic kidney disease
AR
Inheritance pattern for hemochromatosis
AR
Infertility in males with cystic fibrosis is due to?
Absence of vas deferens
Which vitamins are defficient in patients with cystic fibrosis
Fat soluble ADEK
Cystic fibrosis can present as _ in infancy
Failure to thrive
Most common lethal genetic disease of Caucasians
Cystic fibrosis
Treatment of cystic fibrosis
N-acetylcysteine to loosen mucous plugs
Cause of cystic fibrosis + how it presents
Autosomal recessive defect in CFTR gene on chromosome 7. Defective Cl channel -->secretion of abnormally thick mucus that plugs lungs, pancreas and liver --> recurrent pulmonary infections (Pseudomonas and S aureus), chronic bronchitis, bronchiectasis, pancreatic insufficiency (malabsorption and steatorrhea), meconium ileus in newborns
Diagnostic test for cystic fibrosis
Increased concentration of Cl ions in sweat
Associated with low folic acid intake during pregnancy, elevated alpha fetoprotein in amniotic fluid and maternal serum
Neural tube defects
Failure of bony spinal canal to close but no structural herniation, usually seen at lower vertebral levels
Spina bifida occulta
Meninges herniate through spinal canal defect
Meningocele
Meninges and spinal cord herniate through spinal canal defect
Meningomyelocele
Mechanism of fetal alcohol syndrome
Inhibition of cell migration
Newborn presents with postnatal developmental retardation, microcephaly, facial abnormalities, limb dislocation and heart and lung fistulas - probable cause?
Fetal alcohol syndrome
# 1 cause of congenital malformation in USA
Fetal alcohol syndrome
Increase in number of cells (reversible)
Hyperplasia
One adult cell type is replaced by another (reversible) - often secondary to irritation and/or environmental exposure
Metaplasia
Abnormal growth with loss cellular orientation, shape, and size in comparison to normal tissue maturation, commonly preneoplastic (reversible)
Dysplasia
Abnormal cells lacking differentiation, like primitive cells of same tissue, often equated with undifferentiated malignant neoplasms, tumor giant cells may be formed
Anaplasia
Clonal proliferation of cells that is uncontrolled and excessive
Neoplasia