High Yield Flashcards
associated with Chiari II Malformation
Myelomeningocele
(The negative pressure generated from drainage of CSF from the open mm results in the inferior displacement of the cerebellum)
MCC obstructive hydrocephalus
Post hemorrhagic (IVH)
MCC stroke
L middle cerebral artery (60% vs 20% R)
Hypotonia + cryptorchidism + poor feeding
Prader Willi
Paternal deletion of 15q11, Maternal uniparental disomy
MC type of CP in prematurity
Spastic diplegia
Majority of FT infants who develop CP have what kind of APGAR score?
Normal
MC genetic cause of hearing loss
Conexin 26 gene mutation
Genetic cause in 50% cases vs 25% acquired
MC Infectious cause of congenital cataracts
Rubella infection
MC form of brain injury in preterm infants
Diffuse PVL
Persistence of palmar grasp
Characteristic of athetoid CP
MC region of the brain affected by PVL
Periventricular white matter dorsolateral to the external angles of the lateral ventricles
MC craniosynostosis
Scaphocephlay or Dolicocephaly
premature closure of saggital suture
MCC conjunctivitis in the first month of life
Chlamydia
MCC of neonatal seizures
Global cerebral hypoxic ischemia (HIE)
Others: Focal cerebral hypoxic ischemia, cerebral dysgenesis and malformations, metabolic
Most cases of retinoblastoma are inherited or not?
Nonhereditary (usually unilateral)
Perianal dermatitis
Zinc deficiency
RTA associated with nephrocalcinosis
Type 1
Most frequent cause of acute renal failure in neonate
HIE
MC major congenital malformation in the US
NTD
MC single gene disorder in caucasian population
CF
MC inherited cause of mental deficiency
Fragile X
MC genetic cause of short stature
Achondroplasia
MC chromosomal deletion in humans
22q11.2 microdeletion
MC disorder of skeletal development
OI
