Flashcards in Exam #3: Disease of Childhood & Infancy Deck (48):
What is a congenital anomaly?
Morphologic defect that is present at birth
What is the number one congenital malformation in the US?
What is the second leading congenital malformation malformation in the US?
What is the third most common congenital malformation malformation in the US?
What is the fourth most common congenital malformation?
Cleft lip w/ or without palate
What is PDA?
"Patent Ductus Arteriosus"
- Connects fetal pulmonary artery to the proximal descending aorta.
- Fxn= allows most of the blood from the right ventricle to bypass the fetus's fluid-filled non-functioning lungs
- Normally closes with birth, but sometimes it doesn't--> "PDA"
What is the initial direction of a VSD shunt?
Left to right
What happens to reverse the direction of a VSD?
Pulmonary HTN develops from left to right shunting, which leads to RIGHT TO LEFT shunt
What is a cleft lip?
A cleft is a fissure/ opening in the lip
What is atresia? How does the presentation differ based on upper or lower GI?
Abnormal closure of the GI tract
- Upper= baby regurgitates at every feeding
- Lower= take a few days to develop symptoms
Describe the burden of Down's Syndrome in the US.
- Most common chromosomal disorder in the US
- Leading cause of mental retardation in the US
What are Trisomy 21 patient's at risk for?
- 10-20x increase in the risk of developing leukemia (acute megakaryoblastic leukemia is most common)
- Abnormal immune responses predisposing to serious infections
What do nearly all patients with Down's Syndrome over 40 y/o develop?
Alzheimer's Disease or neurodegenerative changes characteristics of Alzheimer's Disease
What is the major risk factor for Down's Syndrome? Why?
- >40 is major increase
- 35-40 slighter increase
*****B/c there is a greater chance of having a meiotic nondisjunction in the ovum
What is a Robersonian translocation? What is the frequency of this mutation causes Down Syndrome?
46, XX 14;21q, +21
4% of cases are caused by the Robertsonian Translocation
What are the 10 physical characteristics specific to Down's Syndrome patients?
1) Mental retardation
2) Epicanthic folds & falt facial profile
3) Simian crease
4) Congenital Heart Defects
5) Intestinal stenosis
6) Umbilical hernia
8) Gap between first and second toe
9) Predisposition to leukemia
10) Oblique palpebral fissures i.e. upward slant of the eyes
What is Cystic Fibrosis?
This is an AUTOSOMAL RECESSIVE disorder that causes a defect in the CFTR (Cl- channel), leading to high salt concentration in exocrine gland, and viscous luminal fluid of the respiratory, GI & reproductive tracts.
What is the incidence of CF?
What is the common initial presentation of CF?
Hypertonic sweat, Mom complains of "salty" taste to baby
What is the genetic mutation that is the basis for CF?
- Mutation affecting CFTR on 7q 31.2
- Specifically, a deletion of 3 nucleotides coding for phenylalanine at amino acid 508
What are the 7 clinical features of CF?
1) Recurrent pulmonary infection
2) Cor pulmonale
3) Chronic pancreatitis
4) Secondary biliary cirrhosis
6) Obstruction of the Vas Deferenes-->sterility
7) Abnormal sweat electrolytes
****Note that newborns also present with abnormal sweat electrolytes
What is the definition of a Neonate?
What is the definition of an Infant?
29 days - 1 year
What is the definition of Preterm?
Born at >38 weeks
What is the definition of Term?
*****Note that post-term is >42 weeks
What is the definition of a Child?
What is an APGAR score? What are the basic factors that determine calculation of an APGAR score? When is the APGAR score determined?
This is a newborn assessment that is scored 0-10, & is a measurement of physiologic conditions/ responsiveness correlated with chances of survival. The areas of assessment include:
- Muscle Tone
Typically done at 1 & 5 minutes
What is the definition of fetal growth restriction?
Fetal weight below the 10th percentile for gestational age determined via ultrasound
What are the fetal causes of Fetal Growth Restriction? How does fetal growth restriction present?
- Chromosomal disorders
- Congenital malformations
*****Note that there is an intrinsic reduction in fetal growth potential despite adequate blood supply--also, there is proportionate growth restriction i.e. all systems are symmetrically effected
What are the placental causes of Fetal Growth Restriction?
- Placental anomalies
- Confined mosaicism i.e. combined diploid & trisomy cells in placenta or fetus
*****Note that these causes of FGR generally reduce blood flow to the fetus b/c of a problem with the placenta, resulting in asymmetric or disproportionate FGR, mostly with brain spread
What are the maternal causes of Fetal Growth Restriction?
- Chronic HTN
- Renal Disease
****Note that these are all maternal factors that reduce placental blood flow & are by far the most common factors leading to FGR
What are the two most likely outcomes for the baby of a smoking pregnant mother?
- Fetal Growth Restriction
What are seven complications of fetal growth restriction?
- Perinatal asphyxia
- Meconium aspiration
- Brain dysfunction
- Hearing & visual impairment
- Learning disability
What are the potential injuries caused during the birthing process?
1) Caput succedaneum
2) Subgaleal hematoma
3) Skull fracture
4) Intracranial hemorrhage
5) Brachial plexus injury
6) Facial nerve injury
7) Fractures of the clavicle & humerus
What is Caput Succedanem?
Scalp swelling caused by pressure of the presenting part of the scalp against the dilating cervix during delivery
What are the different types of perinatal infections?
- Transplacental (hematogenous, mostly viral & parasitic)
- Ascending (transcervical, mostly bacterial)
What is the mneominc to remember the causes of transplacental infections?
Other= Listeriosis, HIV, HBV, & Parvovirus B19
What is congenital syphilis?
Transmission of Syphilis (Treponema pallidum) from mother to infant
*****Note that the spirochete cannot cross the placental barrier until 5th month
What are the characteristic features of congenital syphilis?
- Vesiculobullous rash
- Mulberry molars
- Hutchinson incisors
- Saber Shin
****Note that at birth the infected infants skin & secretions are HIGHLY INFECTIOUS
What is congenital rubella syndrome?
Transmission of rubella (German Measles) from infected mother to infant during the first trimester of pregnancy
What are the characteristics of congenital rubella syndrome?
1) Low birth weight
2) Purpuric rash
3) Small head size
4) Heart defects
5) Visual problems
Describe how the mutation in CFTR leads to the symptoms seen in CF.
Note, the function of the CFTR is DIFFERENT in the sweat duct & airway****
Sweat= CFTR directed such that Cl- goes inward form the epithelium--block= more NaCl on epithelium
Airway= here Cl- is OUTWARD & Na+ is INWARD--No Cl- outward leads to MORE Na+ IN & H20 follows
How does the lung of a CF patient appear microscopically?
At 5 minutes, what are the different APGAR scores associated with?
0-1= 50% fatal
4= 20% fatal
>7= 0% fatal
What is the second most common cause of neonatal mortality in the US?
In the US, 12% are premature
What are the complications of prematurity?
- Hyaline membrane disease
- Necrotizing enterocolitis
- Intraventricular hemorrhage
- Development delay
What is the definition of fetal growth restriction?
Fetal weight below the 10th percentile for gestational age via US