Exam 1 Flashcards
(208 cards)
Term used for features that appear abnormal
Dysmorphic features.
What is plagiocephaly?
Flat head syndrome - uncorrected torticollis can lead to this.
If the fetus has measurements that are symmetrically decreased, then it suggests a __________ versus if the head circumference is preserved and other areas are small that suggests _______
Chronic exposure (maternal smoking or drug use), congenital infection, metabolic disorder or chromosomal abnormality.
Abnormalities occurring LATER in pregnancy like uteroplacental insufficiency.
Small for gestational age is below ______ and large for gestational age is above _____
10th percentile
90th percentile
Glucose screening is recommended for these 3 types of newborns:
- Large or small for gestational age
- Born to diabetic mothers
- Late preterm (34-36 6/7)
What is the average head circumference at 40 weeks gestation?
14in (35cm) with a range of 13-15 in.
Normal HR, RR and SBP for 40wk newborn
HR 120-160
RR 40-60
SBP 60-90
What is Caput succedaneum and is it bad?
Scalp edema, pitting, not limited by suture lines and resolves w/in 48hrs. Not serious.
What is cephalohematoma, when is it more common and what is it a risk factor for?
Injury to a blood vessel in subperiostial layer. Limited by suture lines.
Forcep or vacuum deliveries.
Risk factor for jaundice and sepsis.
May worsen over 48 hours and take 3-4 months to resolve.
What is the CHARGE acronym and what is it associated with?
Coloboma of eye (gap or defect in structure of eye primarily iris), Heart defects, Choanal Atresia, Retraction of growth and/or development, Genital and/or urinary abnormalities, Ear abnormalities and deafness
T/F: dysconjugate gaze is normal in the first 2-3 months of life.
True
What is the difference between dacryostenosis and conjunctivitis?
Dacryostenosis is a blocked tear duct which causes yellow, sticky secretions to accumulate with normal conjunctiva, but conjunctivitis has red irritated conjunctiva.
Newborns with pre auricular pits or cup ears should have a renal ultrasound if:
Other malformations/dysmorphic features, teratogenic exposures, family hx of deafness or maternal history of GDM.
What is choanal atresia?
One or both of the nasal airways are narrowed or blocked.
What could the following newborn cardiovascular findings indicate?
Weak pulses
Bounding pulses
Single second heart sound
Grade 3 or higher murmur
Hepatomegaly
Weak = poor cardiac output (aortic stenosis)
Bounding = high CO (PDA)
SS - truncus arteriosus, hypoplastic left heart
Murmur - pathogenic
Hepatomeg - L HF.
T/F: the newborn first heart sound should be single and the second heart sound should be split.
True.
AD, AR and X-linked conditions are _________
Mendelian single-gene conditions
40% of pediatric genetic conditions have an unknown cause
20-25% are environmental and genetic
10-15% are chromosomal during embryogenesis
2-10% are single gene abnormalities
Types of environmental triggers for genetic anomalies
Maternal disease/sickness
Uterine/placental abnormalieties
Drug/chemicals
1/33 are born with a genetic defect, and 2-3% of genetic conditions are identified at birth. By age 7, 8-10% of children may have 1 or more malformations.
Difference between somatic and germline mutations?
Somatic - single cell - cancer
Germline - egg/sperm, passed on
What Trisomy’s are compatible with live births?
13, 18 and 21
What are the red flags that may indicate a genetic condition
Multiple family members with similar/related conditions
AD inheritance
Early age of disease onset
Occurrence of disease in less-often-affected sex
Multi-focal
Difference between penetrance and variability
Penetrance is the “visible” abnormality as a percentage
Variability is differences in disease expression