Disk Two Flashcards
Down Syndrome is also known as:
Trisomy 21
A presence of a third #21 chromosome
Name 5 physical features typically found in a child with Down Syndrome
Flattened nose, Protruding tongue, Inner epicanthal folds, short fingers with a bilateral single palmar crease, delayed growth and development.
Simple way to remember phenotype vs genotype:
Phenotype is a physical finding, genotype usually takes a lab or other test to confirm.
What is the most common congenital heart defect?
VSD (Ventricular septal defect)
Name 5 physical features of Mafan’s syndrome.
Tall, Arm span is greater than height, High palate, Pectus escavatum, Joint hyperextension, Tall face
A patient with Marfan’s syndrome is at risk for what complications?
Connective tissue disorders, Aortic Regurg, Mitral Valve prolapse, Aortic root aneurysm.
What should you consider for a patient with Marfan’s syndrome wants a sports clearance?
Refer to cardiology for any contact sports clearance.
What is the term Plethora?
a term applied to the beefy red coloration of a newborn. The “boiled lobster” hue of the infant’s skin is caused by an unusually high proportion of erythrocytes per volume of blood.
Fever, cough, conjunctivitis and Koplik spots, followed by a rash along the hairline and forehead that appears on day 3 or 4?
Measles
Rubeola
Low grade fever, post-auricular adenopathy, HA, Myalgias with a rash that appears on the face and rapidly spreads downward?
Rubella
German Measles
Fever, HA, Myalgia with a sudden rash that appears as “Slapped Cheek” with circumoral pallor.
5th Disease
erythema infectiosum
A red reflex test helps to identify what two conditions
Retinoblastoma
Congenital cataracts
What is a Coloboma?
A coloboma describes conditions where normal tissue in or around the eye is missing from birth. (Including the optic nerve, iris or lid)
Caput saccadeum vs Cephalhematoma
Caput crosses the midline (i.e suture lines) it is simple fluid under the skin and will resolve in 2-3 days. Cephalohematoma is blood under the cranial periosteum and requires closer exam.
An infant termed as “Plethora” is at risk for what conditions?
CVA (d/t polycythemia)
More than 5 Cafe au lait spots is concerning for:
Neurofibromatosis.
Define “LGA” and “SGA”
“LGA” Large for Gestational Age (>90th percentile)
“SGA” Small for Gestational Age (<10th percentile)
APGAR stands for
Appearance Pulse Grimmace Activity (tone) Respirations
Average weight and length of newborn
7 lbs (3.1 kgs) 20-21 inches (51 cm)
A newborn is considered premature if he/she is borm prior to what gestational age?
37 weeks
What is Hydrops fetalis?
A fatal condition where there is an abnormal accumulation of fluid in two or more fetal compartments. (i.e. ascites, pleural effusion, pericardial effusion, skin edema)
In a newborn, what temperature is considered feverish?
Anything 100.4 (38 Celsius) or higher
What newborn primitive reflexes should disappear between 3-4 months old?
Rooting, Sucking, Moro, Plantar and Tonic neck
Describe the tonic neck reflex in a newborn
This reflex occurs when the head of a child who is relaxed and lying face up is moved to the side. The arm on the side where the head is facing reaches away from the body with the hand partly open. The arm on the side away from the face is flexed and the fist is clenched tightly. Turning the baby’s face in the other direction reverses the position. The tonic neck position is often described as the fencer’s position because it looks like a fencer’s stance.
Microcephaly is defined as:
Head circumference smaller than two standard deviations.
Anterior fontanel is the largest and closes by what age?
18 months
Posterior fontanel closes by what age?
2-3 months
What conditions would cause a wide fontanel?
Prematurity, IUGR, hydrocephalus, Down’s, Hypothyroidism
If an infant’s sclera is a shade of deep blue, what condition should be ruled out?
Osteogenesis Imperfecta.
Brushfield spots of the iris are associated with what syndrome?
Down’s syndrome
Describe PKU:
Phenylketonuria is a rare autosomal recessive disorder that causes an amino acid called phenylalanine to build up in the body. This enzyme will build up in excessive amounts when protein is ingested. Therefore babies who test positive will likely have a lifelong diet low in protein.
When do PKU symptoms begin to manifest?
Usually within a few months, and usually when bottle feeding begins.
Neuro symptoms of PKU can vary in severity and include:
Neurocongnitive disability, behavioral/social/emotional issues including ADHD. Seizures
Physical manifestations of PKU may include:
Poor bone strength, A musty odor on breath, fair skin, blue eyes, microcephaly.
Describe Milia
Pinpoint white papules on face, prominent on cheek, nose, forehead and chin. Usually disappears within first 3-4 weeks. Common. Not infectious.
Describe Miliaria:
1-2 mm vesicles without secondary lesion. Distribution is anywhere there is are sweat glands. Occurs d/t obstructed sweat glands. Often called “prickly heat,” it is associated with high humidity or ambient temps. Common, non-infectious.
Describe Erythema Toxicum
White/yellow papules/pustules overlaying secondary transitory errythemia described as blothcy. Most common newborn rash. Usually appears 2-5 days after birth and resolves by 14th day. Common, Non-infectious.
Describe Cafe au lait spots
Café au lait spots are irregularly shaped, evenly hyperpigmented, brown macules which occur mostly on the trunk, buttocks and legs. Consider NF if greater than 5 are present.
Describe Junctional Nevi:
AKA: mole. Flat or slightly raised brown to tan macules with uniform pigmentation that may be slightly irregular. The surface is smooth and flat to slightly elevated, and the border is round or oval and symmetric. Usually benign unless a large number are present.
