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