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
MC type of congenital abnormality of the upper extremities
syndactyly
MC nutritional deficiency leading to poor bone mineralization in premature infants
Phosphorous
MCC abdominal mass
Hydronephrosis
MCC Hydronephrosis
UPJ obstruction
MC intrauterine infection worldwide
CMV
MC teratogen
Alcohol
MC area involved in ROP
Zone III
MC injury in term HIE
Selective neuronal necrosis
deep nuclear structures of BG, thalamus, GP
MC CP from HIE
Pyramidal CP –> Pseudobulbar and bulbar issues
Most reliable way of diagnosing GERD
Impedance monitoring
Major hormone for intrauterine growth
insulin
MC preventable form of mental insufficiency
FAS
MCC of asymmetric IUGR
uteroplacental insufficiency
Predominant IGF expressed in tissues of embryos and fetuses
IFG-II
MCC of obstructive uropathy
Posterior Urethral valves
In males
MCC urinary tract dilation on antenatal ultrasoun
Transient/ physiologic
Most common vascular tumor of infancy
Infantile hemangioma
MC location of SIP
Terminal ileum
MC hereditary hemolytic anemia among people of Northern European background
Hereditary spherocytosis (AD)
MC inherited RBC enzyme defect
G6PD
MCC neonatal thrombocytopenia
Infection
also MCC of thrombocytosis
MC site of spontaneous neonatal thrombosis
Renal vein
MC hemoglobinopathy in the world
Hemoglobin E
