Congenital rubella syndrome
congnital rubella syndrome
gum changes due to scurvy (vit C deficiency)
mastoiditis with post auricular abscess
what is this is, and how does it present?
cholesteatoma (presentation: recurrent foul-smelling otorrhea, responds to ototopicals)
what is this, and what is your management?
septal hematoma, consult ENT for drainage
button battery - requires emergent removal! (step sign)
what is this? how do you treat
atypical mycobacterium adenitis
tx: clarithromycin x 7-10 days, f/u in 3 weeks (medical therapy may not work). May need I&D +/- excision.
air trapping (on right side) due to foreign body - aka localized emphysema
H-type fistula (TEF)
laryngeal cleft (consider syndromes: VACTRL, CHARGE, opitz frias)
PCD with situs inversus - kartageners
nasal polyp - associated with CF
erythema marginatum associated with rheumatic fever
dactylitis, assoc with psoriatic arthritis
heliotrope rash associated with dermatomyositis
gottran's papules associated with dermatomyositis
what is this associated with, and what is the karyotype? what is the associated cardiac defect?
turner syndrome, 45 XO, coarctation of the aorta
what is this, and what is it associated with?
22q11 - cleft palate, thymic hypoplasia, cardiac defects
name the syndrome and characteristics
delayed speech, global developmental delay, broad based gait
"the happy puppet"
what is this, what are main features?
initial FTT, hypotonia
followed by hyperphagia
lisch nodules associated with NF1
neurofibromas assoc with NF1 (+ scoliosis)
what is this, what is the genetic mutation
fragile x: characterized by macrocephaly, macro-orchidism, CGG trinucleotide repeat (expansion disorder, if > 200 = full mutation, switches gene off)
- autosomal dominant
- skeletal changes
- dilated aortic root
- dislocated lens
- fibrillin 1 gene mutation
what is it, what is inheritance?
- autosomal recessive inheritance