Pedi Flashcards
Gray/pale yellow spots at periphery of iris =
Associated w/ ___
Brushfield spots
Down syndrome
A 3rd fontanelle along sagittal suture is associated w/ ___
trisomy 21
Fluid accumulation under scalp secondary to birth trauma
Caput succedaneum
Best way to assess newborn hearing
Auditory brain stem response
Evoked otoacoustic emission testing
Pierre-Robin syndrome 1st recognized by ___.
small mandible and tongue
Clefted soft palate
Delayed stool (>24 hrs after birth) may indicate ___
Hirschsprung disease
Severely scaphoid belly + respiratory distress suggest ____.
diaphragmatic hernia
Dropping infant’s head 1-2 cms, infant with abduct at shoulders and elbow w/ spreading and extending of fingers –> adduction and flexion
Disappears by ___
Moro/startle reflex
3-4 months of age
Earliest reflexes
Sucking, rooting
Palmar and plantar grasp disappears by ___
4 months
Dx of Congential Adrenal Hyperplasia
17-Hydroxyprogesterone
Name the chromosomal abnormalities:
Tall, thin, long limbed –> obese in adulthood
Ataxia, expressive language disorders
Males: small penis, hypogonadism, scant pubic/facial hair, gynecomastia
Females: Eunuchoid habitus
Klinefelter syndrome (XXY)
Name the chromosomal abnormalities:
* Short stature, webbed neck, prominent ears, low posterior hairline, broad chest w/ widely spaced nipples
* Visual/spatial perceptive disabilities
* Primary amenorrhea, ovarian dysgenesis, absence of secondary sex characteristics
* Coarctation of aorta, horseshoe kidney, aortic stenosis
Turner Syndrome (OX)
Name the chromosomal abnormalities:
Pale, blue irides
-Long narrowed facies, large protruding ears, large protruding jaw, flat feet, hyperextensible fingers
-Mitral valve prolapse
-Prepubertal large gonads
Fragile X syndrome
Name the chromosomal abnormalities:
* Large-for-gestational-age infant
* Hypoglycemia during infancy
* Creases and pits in earlobes, asymmetric limbs
* RIsk for Wilms tumor, hepatoblastoma
Beckwith-Wiedemann Syndrome
Chromosome 11p15
Name the chromosomal abnormalities:
* Small for gestational age, hypogonadism
* Small hands, feet, almond-shaped eyes, hypotonia
* Mental retardation, short stature, polyphagia
Prader-Wili Syndrome
Chromosome 15q11
Name the chromosomal abnormalities:
* Severe mental retardation, marked developmental delay, poor language skills
* Paroxysmal laughter, tongue thrusting
* Prognathism, seizures, abnormal gait/posturing
Angelman syndrome
Chromosome 15
Growth hormone is produced by ___
Stimulated by ___
Suppressed by ___
Anterior pituitary
GH-releasing hormone
Somatostatin
Dwarfism that results from mutation in GH receptor
Laron syndrome
