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56 Cards in this Set

  • Front
  • Back
Apert Syndrome
craniosynostosis
frontal bossing
down slanting palpebral fissures
proptosis
mitten hands (syndactyly)
Wolf Hirschorn
(4p-)
Greek helmet facies
FTT
high arched eyebrow
severe seizures
severe MR
Amniotic Band
facial cleft
annular constriction
amputations
pseudosyndactyly
normal IQ
Sotos Syndrome
Giantism
normal face
Angelman Syndrome
happy puppet (laughing but no speech)
arms up and flexed
blonder and bluer eyes than expected
seizures
VATER/VACTERL Association
Vertebral
Anal atresia
(Cardiac)
TracheoEsophageal fistula
Renal/Radial
(Limb)
Ehlers-Danlos
hyperextensible easily bruised
joints are hypermobile
bad scars
MVP
(type 4 is vascular)
Cri du Chat
small, microcephalic, round face hypertelorism, high pitched cry, hypotonia
Trisomy 18
small and thin at birth, large occiput, narrow forewhead, small palpebral fissures, low ears, clenched hands with overlapping fingers, VSD, ASD, PDA, severe MR, 1/2 die in 1st wk
Russel-Silver
SMALL, IUGR followed by gradual growth but <3% globally (except normal HC)
triangular face, clinodactyly, cafe-au-lait spots
fasting hypoglycemia.
Waardenburg
partial albinism
White forelock
heterochromia
deaf
VSD
Beckwith-Wiedemann Syndrome
macroscoima, macroglossia, ear creases and dimples, abdominal wall defects, hypoglycemia as neonate
(increased risk of Wilms, hepatoblastoma)
Trisomy 13
postaxial polydactlyly
cleft lip and palate (without premandible)
VSD/PDA/ASD, microcephalic, scalp defects, severe MR
1/2 die in 1st month
Achondroplasia
short stature (rhizomelic limb shortening), frontal bossing, macrocephalic, narrow foramen mangum, midface hypoplasia, trident hand
Crouzon Syndrome
coronal craniosynostosis
proptosis
beak nose
acanthosis nigricans
Prader-Willi Syndrome
initial FTT followed by obesity
almond palpebral fissures, small gonads, small hands and feet, hypotonic infant
Fetal Alcohol Syndrome
growth retardation, microcephly, decreased IQ, small palpebral fissures, smooth long filtrun, thin upper lip, VSD/ASD
Arthrogryposis Syndromes
congenial contractures
club foot, dimpling over joints, congeintal hip dislocations
Hurler Syndrome
coarse face
shoft, macrocephic, cloudy cornea, HSmegaly
Zellweger Syndrome
flat occiput, high forehead, flat face, FTT, PDA< large fontanells.
Cornelia de Lange
bushy eyebrows with synophrys
long eyelash, frown, jirsuit, limb defects
Osteogenesis Imperfecta
fragle bones, short, blue sclera, bowing
Rubinstein-Taybi Syndrome
bent thumbs, broad toes
short, downslanting palpebral fissures, low ears, beak nose, MR
Tuberous Sclerosis Complex
fibrous plaque on forehead, ash leaf spots (hypopigmented), cafe-au-lait spots, angiofibromas in malar distribution, ungual fibromas, seizures, renal, cardiac, CNS tubers, giant cell astrocytoma
Neurofibromatosis I & II
cafe-au-lait spots (>5), Lisch nodules, inguinal and axillary freckling.
Noonan Syndrome
short, web neck, shield chest, Pulmonic Stenosis, low ears, ptosis, pectus
Trisomy 21
obstructive GI (duodenal atresia, puloric, anal atresia, TE fistula)
cardiac (endocardial cushion defect)
eyes (cataracts)
congenital hypothyroidism
atlantoaxial instability
Thrombocytopenia Absent Radius Syndrome
bilateral absent radius
thrombocytopenia with decreased megakaryocytes, thumbs are present, TOF/ASD, Meckel's
Trisomy 9 mosaicism
MR, microcephaly, micrognathia, big forehead and ears, clinodactyly, bilateral hip dislocation
Velo-Cardio-Facial Syndrome
narrow palpebral fissures, big tubular nose, VSD/TOF, cleft palate
(same region deleted as CATCH22 and DiGeorge)
Marfan Syndrome
Skeletal: Tall, long thin hands and feet, flat feet, hypermobile joints.
Occular: lens subluxes up
Cardiac: aortic dilitation and rupture
Derm: Striae
Holoprosencephaly Syndrome
cyclopia or hypotelorism
Proboscis
absent philtrum or nasal septum
Fetal Hydantoin Syndrome
digit/nail hypoplasia
unusual face
MR
Fetal Valproic Acid Syndrome
cardiac
hhyigh narrow forehead
epicanthal folds
small mouth
open neural tube defects
Lithium Exposure
Ebstein anomaly
other cardiac defects
ACE inhibitor exposure
oligohydramnios
anuria as infant
fetal hypotension
PDA
Stickler Syndrome
Pierre-RObin Sequence
flat face
deaf
rhizomelic limbs
Treacher-Collins
assymetric face
down slanting palpebral fissures
lower lid colobomas, no lashes
micrognathia
hearing loss
Ectodermal Dysplasia
sparse fine hair
no teeth or few sharp conical teeth
few sweat and mucous glands
150 types
MURCS Association
Mullerian duct aplasia, renal aplasia, cervicothoracic somie dysplasia
Pierre-Robin Sequence
hypoplasia of mandible
micrognathia, high arch/cleft palate, tongue falling back causing obstructive apnea
CATCH 22 association
cardiac
abnormal face
thymic hypoplasia
cleft palate
hypocalcemia
22q11.2 deletion (same as DiGeorge)
Fragile X
MR, macrocephaly, long face, large ears, high arch palate, large testicles
fetal Rubella syndrome
small, cataracts, glaucoma, deaf, thrombocytopenia, MR, hepatomegaly
Infant of Diabetic Mother
macrosomia, cardiac septal hypertrophy, VSD or other CHD, caudal regression (hypolastic sacrum and LE), neonatal hypoglycemia and hypocalcemia
CHARGE association
Colobomas, Heart, choanal Atresia, Retarded growth and development, Genital abnormalities, Ear abnromalities or deafness.
Williams Syndrome
perioorbital fullness, anteverted nares, long filtrum, thick large lips, SVAS, hypercalcemia in infantcy, locquacious personality
Oculo-auriculo-vertebral dysplasia
hypoplasia of lower face, ear abnormalities, hearing loss, vertebral anomalies, assymetric face
Mobius
CN VI, CN VII palsy, mask face, limb malformations
Klinefelter Syndrome
eunuchoid habitus, gynechomastia, hypogonadism, long limbs, tall, partial puberty, inftertile, learning disabilities.
Turner Syndrome
short stature, big low set ears, excessive nucal skin with low posterior hairline, broad (shield) chest with wide spaced nipples, increased carrying angle, ovarian dysgenesis, cardiac anom, horseshoe kidney, high arched palate, autoimmune disorders.
Retinoic Acid exposure
no/small ear
CN VII paralysis
DOUBLE OUTLET RV/TOF/TGV,TA
bad CNS, MR
Alagille Syndrome
Biliary Atresia (require liver transplant)
Broad forehead, deep set eyes, long nose with flat tip, prominent chin
peripheral pulmonic stenosis
butterfly vertebrae
MELAS
mitochondrieal
encephalopathy
lactic acidosis
stroke
MERRF
mitochondrial
encephalopathy
ragged
red
fibers
NARP
neuropathy
ataxia
retinitis
pigmentosa