infant w/ hypotonia Flashcards
common features of down syndrome
upslanting palpebral fissures
small ears
flattened midface
epicanthal folds
redundant skin on back of neck
hypotonia
brushfield spots
small shaped mouth
short fifth finger w/ clinodactyly, wide spacing and deep plantar groove between 1st and second toes
what is the standard lab diagnosis modality for down syndrome?
lymphocyte karyotype
what are indications for chromosomal analysis in peds patients
clinical fts of a known chromosomal disorder
unrecognized malformation syndrome
known genetic condition but w/ more or severe findings
w/ mental retardation and other unusual findings
stillborn w/ multiple malformations
w/ fts of chromocomal breakage syndrome
w/ a tumor (including leukemia) that may be associated w/ chromosomal abnormalities
what are some conditions that occur w/ increased frequency in children w/ down syndrome
hypothyroidism
hearing loss
OSA
otitis media
eye disease/cataracts
congenital heart defects
neuro dysfx
GI atresias
hip dislocation
thyroid disease
transient myeloproliferative disorder
leukemia
hirschsprung
trisomy 13 features
cleft lip, cutis aplasia, microcephaly
trisomy 18 features
micrognathia
low set ears
overlapping fingers
rocker-bottom feet
trisomy 21 features
epicanthic folds
flat facial profile
single palmar crease
intestinal stenosis
r/o leukemia
sandal toes
