inherited intellectual disability? expansion of CGG trinucleotide repeats intraventricular hemorrhage
in the FMR1 gene? may be reduced by preventing
Fragile X syndrome preterm labor and administering
Gãy NST X Fragile X syndrome antenatal maternal corticosteroids
Which congenital infection is
Small for gestational age (SGA) infants associated with limb hypoplasia,
Alport syndrome occurs secondary to cataracts-đục thuỷ tinh thể, and
an inherited defect in type IV collagen have a birth weight that is below the 10th skin scars?
percentile for gestational age
Varicella zoster
What is the next step in
What is the recommended treatment for a
What is the recommended treatment for management for a child that
newborn of a mother with active hepatitis B?
transient synovitis? presents with suspected
anaphylaxis?
hepatitis B immune globulin followed by HBV
Rest and NSAIDs
vaccine at birth
Intramuscular epinephrine
What genetic pathology is
characterized by inappropriate
In patients with subcutaneous emphysema Both Prader-
laughter, seizures, ataxia, and
secondary to severe cough paroxysms (ho bộc Willi and Angelman syndrome are due to
severe intellectual disability?
phát nặng), a CXR must be obtained to rule a mutation or deletion of genes
out pneumothorax on chromosome 15
Angelman syndrome ("happy
puppet syndrome")
, The symptoms of Lesch-Nyhan
The symptoms of Lesch-Nyhan syndrome may be remembered
The symptoms of Lesch-Nyhan syndrome may
syndrome may be remembered with the with the mnemonic "HGPRT":
be remembered with the mnemonic "HGPRT":
mnemonic "HGPRT":
H: Hyperuricemia
H: Hyperuricemia
H: Hyperuricemia G: Gout
G: Gout
G: Gout P: Pissed off (aggression, self-
P: Pissed off (aggression, self-mutilation)
P: Pissed off (aggression, self-mutilation) mutilation)
R: Retardation (intellectual disability)
R: Retardation (intellectual disability) R: Retardation (intellectual
T: dysTonia
T: dysTonia disability)
T: dysTonia
The symptoms of Lesch-Nyhan
The symptoms of Lesch-Nyhan syndrome may be remembered
The symptoms of Lesch-Nyhan syndrome may
syndrome may be remembered with the with the mnemonic "HGPRT":
be remembered with the mnemonic "HGPRT":
mnemonic "HGPRT":
H: Hyperuricemia
H: Hyperuricemia
H: Hyperuricemia G: Gout
G: Gout
G: Gout P: Pissed off (aggression, self-
P: Pissed off (aggression, self-mutilation)
P: Pissed off (aggression, self-mutilation) mutilation)
R: Retardation (intellectual disability)
R: Retardation (intellectual disability) R: Retardation (intellectual
T: dysTonia
T: dysTonia disability)
T: dysTonia
, Which infectious skin
disorder is a superficial bacterial skin
infection characterized by honey-colored
crusting? What is the preferred imaging
modality for diagnosis of
Impetigo developmental dysplasia of the hip
What microorganisms (2) are most commonly Chốc in infants < 4 months old?
associated with non-bullous impetigo?
Hip ultrasound
Staphylococcus aureus (more common) and
Streptococcus pyogenes
, What is the preferred imaging modality for What cause of intellectual disability is What inherited disorder is caused
diagnosis of developmental dysplasia of the hip associated with small palpebral fissures, by expansion of GAA
in infants > 4 months old? smooth philtrum, and thin vermillion trinucleotide repeats in the
border? frataxin gene?
Hip X-ray
Fetal alcohol syndrome Friedreich ataxia
Mất điều hoà Friedreich