Peds Wk 1 Flashcards
Toxoplasmosis Triad
Chorioretinitis
Hydrocephalus
Intracranial calcifications
Rubella causes
Ears, eyes, heart issues.
Growth retardation
Petechiae and purpura (blueberry muffin lesions)
Congenital CMV
Most common congenital infxn
Leading cause of sensorineural hearing loss
CMV retinitis
Congenital HSV manifestations
Sepsis Liver Lungs Seizures Encephelopathy
Maternal Medications
ACE, ARB Anticonvulsant Antineoplastics Thalidomide, retinoic acid Lithium Tetracycline, sulfas
S/S of FAS
Low Nasal bridge Short nose Small eye opening Small head circumference Thin upper lip Hockey stick palm crease Low IQ, SGA
High-altitude is a risk factor for?
PDA
Trisomy 13
Most die of heart failure or infxn in infancy.
Deletion 22q11 syndrome
Most have congenital heart dz and cleft palate.
Affects all body systems
Learning difficulties are common
Turner Syndrome
XO Rare female dz Renal abnormalities Heart defect Thyroiditis
Turner syndrome dysmorphic features
Low posterior hairline Short stature Gonadal dysgenesis Lymphedema Webbing of neck
Kleinfelter Syndrome
XXY Hypogonadism in men Tall, wide arm span Female habitus Behavioral problems Gynecomastia
Fragile X
Males and females
Mental retardation
Large ears, testicles
Autistic like behavior
Marfans Tx
Beta blockers
Lorsartan?
Phenylketonuria (PKU)
Most common amino acid metabolism disorder.
Hypopigmentations
Neuro abnormalities
Severe mental retardation