COMQUEST Wrongs 2.0 Flashcards
signs and symptoms of Waardenburg syndrome?
- deafness
- hypopigmented irises (blue)
- white forelock
- flat nasal bridge
what is the genetic karyotype of Turner syndrome?
45, XO
signs and sx of Turner syndrome?
- webbed neck or swollen hands and feet (lymphedema)
- short stature
- primary amenorrhea
- high-arched palate
- coarctation of aorta
- shield chest with wide spaced nipples
- excessive nevi
- low hairline
- pubic hair but no breasts (androgens but no estrogen due to no ovaries)
- streak ovaries
newborn with dismorphic featrues and a “mewing” cry
Cri-du-chat
2-4 years of age, coarse facies, NO CORNEAL CLOUDING, short stature, skeletal abnormalities, hepatosplenomegaly, hearing loss, retinal degeneration, mental retardation
Hunter syndrome
born normal. sx develop over 1st year of life. coarse facies, corneal clouding, protuberant tongue,inguinal hernias, hepatomegaly, heart disease, kidney disease, skeletal deformities, developmental delay
Hurler syndrome
Microcephaly with holoprosencephaly, cleft lip/palate, cutis aplasia, microopthalmia, omphalocele, postaxial polydactyly, rocker bottom feet, cardiac defects,(patent ductus areteriosus, ventricular septal defect, atrial septal defect, dextrocardia)
Patau syndrome
What are the signs and sx of Tay Sachs?
a child born normal, then in months 4-5 of life who develops:
- progressive neurologic delay in the absence of hepatosplenomegaly
- exaggerated response to sound
- cherry red spot in retina
signs and sx of Neimann-Pick disease?
normal at birth, but areound 3 months of age develop:
- hepatosplenomegaly
- cherry red retinal spots
after 3 months:
- failure to thrive
- respiratory tract infections
- irritability
age 6:
- hypotonia
- spasticity, rigidity, unable to react with environment
signs and sx of Kawasaki Disease?
- HIGH temp of 104 or higher
- rash on trunk
- cervical lymphadenopathy
- red palms and soles, swollen hands and feet
- bright red mouth
- dry cracked lips
- conjunctivitis
complication opf kawasaki disease?
coronary artery aneurysm–> heart attack
treatment of kawasaki disease?
- aspirin or tylenol for inflammation
- IVIG to prevent coronary artery aneurysms
Signs and sx of Goodpasture syndrome?
- pulmonary alveolar hemorrhage (hemoptysis)
- acute glomerulonephritis (hematuria)
Pathology of Goodpasture syndrome?
anti-glomerular basement membrane (IgG) antibodies
What are the signs and sx of Berger’s syndrome?
recurrent episodes of hematuria, often starting within a day or two of an URI
