peds Flashcards
(91 cards)
trisomy 21
down syndrom
trisomy 21 symtoms
simin crest hearing loss atlanto occipital instability doudenal atresia hypo thyriosim leukemia
trisomy 18
edwards
trisomy 18 symtoms
iugr hands clinching severe menatal retardation rocker bottom feet omphalocele
trisomy 13
patu
trisomy 13
iugr
polydactyl
holoprosencephaly
midline cleft
45 xo
turner syndrom
turner syndrom
short stature overian dysgenisis lymphedema cubitus valgus coarctation of the aorta by age 3 bicuspid aortic valve mc renal
klinefelter
47xxy
klinefelter
male tall stature thin long limbed delayed secondary development gynecomastia behavioral disorders no sperm do to damged sterile cells
frágil x
repet cgg mc form of heritable mr males macroorchidism karyotype normal
marfan syndrom
febrillin 1 gene (ad) joint hyperlaxity- arachnodactyly- long fingers kyphosis scoliosis ectopic lentis aortic and mitral regurg _can not exercise
ehlers danlos syndrom
fibrillar collegen
jont hypermobility
skin hyperelesticity
fragil blood vessels
collegen type 1
bone muscle
collegen 2
cartilage
collegen 3
bv organs
collegen 4
basement membrane
achondroplasia
proximal extremity shortening large head prominent for head and mandible lordosis protrusion of abdomen cord compression
beckwith wiedeman syndrom
hemihypertrophy
larg for gestational age
hypoglycemia - primary hyper insulinemia due to beta cell hyperplaisa
adominal tumors
tx subtotal pancreatectomy
prune belly syndrom
congenital absence of anterior abdominal wall muscle
urinary anomalies
cryptochidism
prader willi
chromosome 15
prader willi syndrome
obesity short stature hypotonia hypo gonadism mental retardation aggressive central medial nucleus
sickle cell disease black male
hemoglobin s substitute valine for glutamic acid polymers sickle or crescent shaped hand foot syndrome vaso occlusive crisis howell jolly bodies infections with encapsulated organisms
hemoglobin c disease
lysine for glutamic acid
rod shaped crystals in rbc
splenomegaly- spleen eats rbc crystals and eats them