peds11 Flashcards
difference between malformation and deformation
deformation is caused by mechanical forces
when is cvs done? Amnio?
cvs at 10-13 weeks and amnio 16-18
marfan syndrome genetics
autosomal dominant, chrom 15 fibrillin
ocular findings in marfans
upward lens subluxation and retinal detachment
marfan syndrome looks similar to what, which should be screened for
homocysteinuria
prader willi genetics
absence of paternally derived part of chrom 15
almond shaped eyes and fishlike mouth
prader willi
weight in prader willi
initially FTT but then later gain weight due to polyphagia, however they have small stature with small hands and feet and hypogonadism
neuro features of prader willi
hypotonia and mental retardation
neuro findings in angelman
jerky arm movements, ataxia, and paroxysms of innaprop laghter, mental retardation
noonan syndrome
often called male version of turners, but females can be affected too
gene for noonan
chrom 12
skeletal findings in noonan
short stature and webbed neck
craniofacial findings in noonan
short webbed neck and low hairline
cardiac defect in noonan
right sided heart lesions, like pulm valve stenosis;
two diseases with deletion of 22q11
digeorge and velocardiofacial syndrome
clinical features of digeorge
cardiac findings, thymus and parathyroid hypoplasia causing cell-mediated immunodef and severe hypocalcemia; infections and seizures caused by hypocalcemia
veocardiofacial syndrome
craniofacial, cardiac, and neuro findings
ehlers-danlos
production of defective type V collagen
ehlers-danlos inheritance
autosomal dom
osteogenesis imperfecta
abnormal type I collagen
clinical features of OI
blue sclerae, fragile bones, yellow or gray-blue teeth, easy bruisability; early conductive hearing loss and skeletal deformities
VACTERL (VATER)
vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal defects, limb defects
CHARGE
colobomas (absence or defect in ocular tissue), heart defects, atresia of the nasal choanae, retardation, genital anomalies, ear anomalies
williams syndrome
cocktail party personality; deletion on chrom 7 that codes for elastin;
features of williams syndrome
elfin facies, mental retardation, supravalvular aortic stenosis, idiopthic hypercalcemia of infancy, connective tissue abnormalities
de Lange syndroem
single eyebrow and very short stature; microcephaly; infantile hypertonia, mental retardation; small hands and feet, cardiac defects; behavioral findings
russell-silver syndrome
short stature and skeletal assym with normal head circumfrence; SGA; small triangular face; cafe-au-lait spots on skin; excessive sweating
pierre-robin syndrome
micrognathia, cleft lip and palate, large tongue; complications include recurrent otitis media and upper airway obstruction that may require tracheostomy
cri du chat syndrome
caused by partial deletion of the short arm of chrom 5; catlike cry; slow growth, microcephaly, mental retardation, hypertelorism, downslanting palpebral fissues
second most common trisomy syndrome
trisomy 18
is trisomy 18 more common in males or females
3x more common in females
clinical features of trisomy 18
neuro (mental retardiaton and hypertonia with scissoring of lower extremities), delicate, small facial features; clenched hands with overlapping digits and rocker bottom feet
prognosis of trisomy 18 ids
95% die within the first year
craniofacial features of downs
brachycephaly, epicanthal skin folds, upslanting palpebral fissues, brushfield spots (speckled irides0, protruding tongue
MSK features of downs
hypotonia, clinodactyly, single palmar creases, wide space between first and second toes
GI features of downs
duodenal atresia, hirschsprung disease and omphalocele, pyloric stenosis
cardiac features of downs
endocardial cushion defects
complications of downs
atlantoaxial cervical spine instability; leukemia; celiac disease, early alzheimers, obstructive sleep apnea, conductive hearing loss, hypothyroidism, cataracts, glaucoma, and refractive errors
trisomy 13 clinical feautres
midline defects; holoprosencephaly, microcephaly, seizures, severe mental retardation; micropthalmia, cleft lip and palate; death within the first month of life
lymphedema in turners syndrome
causes swelling of the dorsum of hands and feet
cardiac defects in turners
are left sided; especially coarctation of the aorta, bicuspid aortic valve, and hypoplastic left heart
genetics of fragile X syndrome/
variable number of CGG repeats on chrom X; increase in number of repeats as massed from generation to generation\
most common cause of heritable mental retardation
fragile x
clinical features of fragile x
mild to severe mental retardation; large ears, macrocephaly, large testes, behavioral findings
most common cause of male hypogonadism and infertility
klinefelters
chromosomes for klinefelters
xxy
clinical features of klinefelters
tall stature with long extremities; hypogonadism and delayed puberty; gynecomastia; variable intelligence; behavioral findins
skeletal dysplasia
short stature caused by bone growth abnormalities;
rhizomelia
proximal long bone abnormalities (humerus and femur)
