Congenital Disorders

Question 1

What does TORCH stand for?

Answer 1

toxoplasmosis, other, rubella, CMV, herpes simplex

Question 2

Bug found in cat feces, raw or undercooked meat, contaminated soil or water

Answer 2

toxoplasma gondii

Question 3

Maternal sx include: fatigue, fever, headache, malaise, and myalgia

Answer 3

toxoplasmosis

Question 4

Neonate sx include: fever, maculopapular rash, hepatosplenomegaly, microcephaly, seizures, jaundice, thrombocytopenia, and, rarely, generalized lymphadenopathy

Answer 4

toxoplasmosis

Question 5

Classic triad of congenital toxoplasmosis

Answer 5

chorioretinitis,hydrocephalus, and intracranial calcifications

Question 6

Infections that are included in the “other” classification of TORCH

Answer 6

HIV, parvovirus B-19, varicella, hepatitis B, syphilis

Question 7

Bug responsible for causing syphilis

Answer 7

Treponema pallidum

Question 8

Neonate/childhood manifestations of infection include rash, osteochondritis, liver/lung fibrosis, interstitial keratitis, hutchinson teeth, CN VIII deafness

Answer 8

congenital syphilis

Question 9

Clinical manifestations include: deafness, cataracts, cardiac manifestations, blueberry muffin lesions, hepatosplenomegaly, growth retardation

Answer 9

congenital rubella

Question 10

Most common congenital viral infection

Answer 10

CMV (40,000 per year)

Question 11

Leading cause of sensorineural hearing loss, mental retardation, retinal disease and cerebral palsy.

Answer 11

congential CMV

Question 12

Congenital infection most commonly acquired at the time of birth if mom is having primary outbreak. C-section to prevent transmission

Answer 12

Herpes Simplex

Question 13

Percentage of infants who acquire HSV born to mothers with no previous history or clinical findings of HSV

Answer 13

75%

Question 14

Treatment of congenital HSV

Answer 14

acyclovir

Question 15

Clinical manifestations include: cutanteous scars, cataracts, chorioretinitis, nystagmus, hypoplastic limbs, cortical atrophy, seizures

Answer 15

congenital varicella

Question 16

Syndrome characterized by low IQ, small for gestational age, learning/behavorial difficulties, facial dysmorphism

Answer 16

fetal alcohol syndrome

Question 17

Common meds that are teratogens

Answer 17

ACEI, tetracycline, sulfas, fluconazole, anticonvulsants

Question 18

Common maternal medical disorders that can cause birth defects

Answer 18

DM, PKU, Lupus, HTN, hypothyroidism

Question 19

All of the following have what in common: amniotic bands, too little/much amniotic fluid, position of fetus, uterine fibroids, placental issues

Answer 19

they are mechanical forces taht may cause congenital defects

Question 20

Sx of this defect include: fatigue, diaphoresis w/feeding, poor growth, pansystolic murmur

Answer 20

VSD

Question 21

Why might a VSD be asymptomatic at birth?

Answer 21

due to normally elevated pulmonary vascular resistance but as the PAP decreases, the amount of left to right shunt increases

Question 22

This defect is usually asymptomatic. Soft systolic ejection murmur, fixed split S2.

Answer 22

ASD

Question 23

Sx of this defect include widened pulse pressure, machine like murmur

Answer 23

PDA

Question 24

Tx of PDA if it fails to close within 24 hrs

Answer 24

prostaglandin inhibitors (indomethacin) or catheter based intervention

Question 25

Defect that is often associated with other heart abnormalities and occurs where the ductus arteriosis inserts into the aorta

Answer 25

coarctation of the aorta

Question 26

Tx of coarctation of the aorta

Answer 26

keep ductus arteriosus patent until surgery

Question 27

Components of tetralogy of Fallot

Answer 27

VSD, pulmonary stenosis, overriding aorta, right ventricular hypertrophy

Question 28

Sx of this defect include harsh systolic ejection murmur, hypoxia, cyanosis, tachypnea

Answer 28

Tetrology of fallot

Question 29

term for cyanosis that worsens with crying, toddlers will squat to relieve symptoms, may have syncope, hemiparesis, seizures or death may occur

Answer 29

tet spells

Question 30

Most common abnormality of chromosomal number

Answer 30

Trisomy 21 (1:800)

Question 31

40% have congenital heart defects and 20X increased risk of leukemia

Answer 31

Trisomy 21

Question 32

Most common characteristic of Down Syndrome

Answer 32

mental retardation with IQs mostly between 40-50

Question 33

Chromosomal defect with multiple dysmorphic features. Most die of heart failure or infection in infancy or by the second year of life

Answer 33

Trisomy 13

Question 34

Syndrome characterized by hypoplasia of the thymus and/or parathyroid gland, conotruncal cardiac defects, facial dysmorphism

Answer 34

Deletion 22q11 Syndrome

Question 35

Clinical manifestations include neonatal hypocalcemia, increased infectsion and predisposition to autoimmune diseases

Answer 35

Deletion 22q11 Syndrome

Question 36

Clinical manifestions include lymphedema, webbing of neck, short sature, multiple pigmented nevi, gonadal dysgenesis

Answer 36

Turner Syndrome (XO)

Question 37

Tx for Turner Syndrome

Answer 37

Estrogen replacement therapy, Growth hormone therapy

Question 38

Most common congenital abnormality causing primary hypogonadism

Answer 38

klinefelter syndrome

Question 39

Sx include: absent frontal baldness, wide hips, narrow shoulders, female-type pubic hair pattern, long arms/legs, small testis

Answer 39

Klinefelter’s

Question 40

Mutation of DNA that codes for a protein helps plays a role in the development of synapses

Answer 40

Fragile X syndrome

Question 41

Disease of the exocrine gland system. Defective chloride channel results in highly viscous secretions and abnormal mucociliary clearance

Answer 41

Cystic Fibrosis

Question 42

Chronic progressive genetic disorder of the body’s mucus glands. Affects the respiratory and digestive systems in children and young adults

Answer 42

Cystic Fibrosis

Question 43

Clinical manifestations include cough, nasal polyps, recurrent chest infections, intussception, rectal prolaspe, meconium ileus

Answer 43

Cystic fibrosis

Question 44

Gold standard test for cystic fibrosis

Answer 44

sweat test

Question 45

Caused by a mutation in the FBN1 gene that determines the structure of fibrillin

Answer 45

Marfan’s

Question 46

Clinical presentation includes flat feet, scoliosis, long/skinny fingers and toes, stretch marks, hyperflexible joints

Answer 46

Marfan’s

Question 47

Most common amino acid metabolism disorder. Decreased activity of phenylalanine hydroxylase

Answer 47

Phenylketonuria (PKU)

Question 48

Clinical presentation includes: hypopigmentation, tremors, hypertonicity, seizures, mental retardation

Answer 48

Phenylketonuria (PKU)

Question 49

Tx for PKU

Answer 49

Restriction of foods high in Phenylalanine, avoid aspartame, supplementation of tyrosine

Question 50

Deficiency of galactose-1-phosphate uridyltransferase leading to buildup of unmetabolized galactose

Answer 50

Galactosemia

Question 51

Clinical presentation includes: Hepatomegaly
Vomiting, anorexia
Growth failure, Aminoaciduria

Answer 51

galactosemia

Question 52

What happens if a galactosemic patient is given milk?

Answer 52

unmetabolized milk sugars build up and damage liver, eyes, kidneys, brain

Question 53

Name the two major types of neural tube defects

Answer 53

anecephaly (no cranium) and meningomyelocele (spina bifida)

Question 54

Highest incidence in Asian and Native American popns. 2:1 male-female ratio

Answer 54

Cleft lip with/without cleft palate

Question 55

Clinical presentation includes: muscle spasticity, dyskinesia, ataxia, epilepsy, mental retardation

Answer 55

cerebral palsy