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63 Cards in this Set

  • Front
  • Back
musty odor, hypopigmentation, seizure, retardation, developmental delay, microcephaly, eczema, if congenital watch out for heart defects
lethargy, refusal to feed, grunts, rapid RR, seizure coma, cerebral edema, respiratory failure
male neonate with OTC def
self protein restriction, cyclic vomiting, HA, slurred speech, ataxia
female neonate with OTC def
hyperacusis (increased startle), hypotonia, cerebral and macular degeneration, cherry red spot on macula, progressive neurodegeneration, seizure, blindness, death by age 4
Tay Sachs
hepatosplenomegely, bone dz (femoral head erosions), anemia, thrombocytopenia, lung dz, fish skin, hydrops, calcified heart valves, supranuclear ophthal
Gaucher dz
microcephaly, IUGR, small palpebral fissure, smooth philtrum, 5th finger clinodactyly, nail hypoplasia, agenesis of CC and cerebellum, distal limb abnormalities, ASD/VSD, no fear, bad behavior
Fetal Alcohol Syndrome
chondrodysplasia punctata, nasal bridge hypoplasia, hemorrhage
Warfarin teratogenicity
meatal stenosis, hypospadias, cryptochordism, vaginal adenosis and adenocarcinoma in mom
DES teratogenicity
Ebstein's anomaly of triscupid valve
Lithium teratogenicity
CNS, ear, mental retardation, abortifecent
Accutane teratogenicity
growth and mental retardation, cardiac anomalies, skeletal and limb defects, cleft palate, characteristic facies, arched eyebrow, nail hypoplasia
Hydantoin teratogenicity
characteristic facies, cardiac and lib detects, spina bifida, cleft lip
Valproate teratogenicity
microphthalmia, cataracts, PDA, pulmonic stenosis, deafness, microcephaly, immune and endocrine deficiencies
Congenital rubella
hydrocephalus, IUGR, chorioretinitis, deafness, seizure, intracranial calcification
Congenital CMV
hydrocephalus, chorioretinities, deafness, intracranial calcification
Congenital toxoplasma
macrosomia, polycythemia, coloboma, VSD, spina bifida, sacral agenesis, holoprosencephaly, decreased perfusion of lower extremities, sirenomelia (persistence of vitelline artery), caudal regression
Fetal effects of maternal DM
blue sclerae, nl bone Xray, nl stature, nl teeth, few fractures (usually on ambulation and possibly at birth, rare in the perinatal period), high frequency hearing loss
Osteogenesis Imperfecta type I
perinatal lethal from respiratory failure, dark sclerae, beaked nose, soft calvarium, beaded ribs, bowed legs, flat vertebral bodies, small thoracic cavity
Osteogenesis Imperfecta type 2
progressive deforming subtype, defects with ambulation, kyphoscoliosis, pulmonary insufficiency, dentinogenesis imperfecta, undermineralized calvarium, thin ribs, osteopenic skeleton, angulation deformities of tibia and femur, short stature. Tx with intramedullary rods
Osteogenesis Imperfecta type 3
nl sclerae, dentinogenesis imperfecta is common, hearing loss
Osteogenesis Imperfecta type 4
hyperextensible skin, joint hypermobility (seen with crawling), easy bruising, cigarette paper scars, early development of DJD, premature rupture of membranes leading to premature births, mutation in COL5A1
Ehlers Danlos type 1
type 2: less severe than type 1
type 3: soft but not hyperextensible skin, mutation in COL5A1
Ehlers Danlos
vascular or ecchymotic, visible venous patterns, marked bruising, arterial rupture, colon rupture, uterine rupture, mutation in COL3A1
Ehlers Danlos type 4
aortic root dilatation due to tunica media defect, ectopia lentis, diastolic murmur, MVP, tall stature, wide arm span, arachnodactyly, scoliosis, pes planus, pectus excavatum, genu recurvatum, joint dislocation, dural ectasia, iridodenosis, spontaneous pneumothorax
Marfan syndrome
rhizomelia (proximal limb shortening), limitation of elbow extension, trident configuration of hands, genu varum, lumbar lordosis, macrocephaly with frontal bossing, foramen magnum tightening
midface hypoplasia, upslanted eyes, epicanthal folds, large tongue, small ears, short neck, redundant neck skin, AV canal defects, duodenal atresia ('double bubble sign'), single transverse palmar crease, 5th finger clinodactyly, Hirschsprungs, sandal gap deformity, increased risk of AML M7, Brushfield spots, hypothyroid, Alzheimers
Down syndrome
holoprosencephaly, microphthalmia, coloboma, microcephaly, post axial polydactyly, cleft palate, hypogenitalism, low ears, horseshoe kidney. ASSOCIATED WITH ADVANCED MATERNAL AGE
Trisomy 13 (Patau syndrome)
triangular facies, pointy ears, small mouth, micrognathia, hypertonia, flexion deformity of fingers, rocker bottom feet, overlapped fingers, short sternum, omphalocele, heart defects
Trisomy 18 (Edwards syndrome)
short stature, cystic hygroma, lymphedema, aortic coarctation, horseshoe kidney, wide set nipples, streak gonads, increased carrying angle of arms, shield chest, Hashimotos, primary amenorrhea, no secondary sexual characteristics, nl intellect
Turner syndrome
eunuchoid, tall stature, gynecomastia, infertile, impaired language and reading, post pubertal testicular failure
Klinefelter syndrome
round face, hypertelorism, low set ears, mental retardation, shrill cry
Cri du Chat
hypotonia, undescended testis, hyperphagia, obesity, OCD, almond eyes, carp shaped lips, partial albinism, narrow bifrontal diameter, upslanting palpebral fissures
Prader Willi
ataxia, inappropriate laughter, prominent jaw, side mouth, pointed chin, thrusting tongue, flapping hands, jerky movement, hypopigmentation, no speech
Angelman syndrome
supravalvular aortic stenosis, triangular facies, long philtrum, hyperCa, prominent lips, cocktail party behavior, ADD, anxiety, can't draw, periorbital fullness, starburst iris
Williams syndrome
CATCH22: cardiac(truncus areteriosis, interrupted aortic arch), abnl facies, thymic hypoplasia (w/ subsequent T cell defect), cleft palate or lip, hypoCa (due to lack of parathyroids). Also look out for bifid uvula, small low set ears, hypertelorism
macroorchism, hyperacivity, autism, facial dysmorphism, hypotonia, large chin, broad jaw, large ears, most common cause of mental retardation, due to lyonization can see retardation in some females as well
Fragile X
myotonia, can't release grip, muscle weakness, atrophy, ptosis, open mouth, cardiac conduction problems, frontal balding, cataracts, endocrine problems, congenital form can occur if mom is carrier (polyhydramnios, respiratory insuffiency, facial diplegia, preterm labor risk)
Myotonic dystrophy
dysarthria, ataxia, sesory axonal polyneuropathy, cardiomyopathy
Friedrich ataxia
onion bulbing
Type 1: decreased NCV, polyneuropathy, distal muscle weakness, absent DTRs, high arched foot
Type 2: nl NCV
Charcot Marie Tooth
reduced NCV, episodic palsies precipitated by trauma/compression, carpal tunnel, sausage thickening of myelin sheath
leading cause of retardation and autism in girls, female predominance, signs show after 6-18 months of life, purposeless movement, apnea, ataxia, repetitive hand movement, acquired microcephaly, males die of neonatal encephalopathy
Rett syndrome
many polyps, colon CA risk, congenital hypertrophy of pigment epithelium, benign odontogenic cysts of the jaw or skull, epidermoid cysts, desmoid tumors, hepatoblastoma, thyroid CA risk
Gardner syndrome
multiple neurofibromas (no transformation risk), schwannomas of CN VIII, cafe au lait spots, pigmented iris hamartomas (Lisch nodules), skeletal dysfxn (scoliosis and bone cysts), increased incidence of other tumors (ex: pheochromocytoma, Wilms, rhabdomyosarcoma, leukemia), plexiform neurofibroma (which have transformation risk to malignant peripheral nerve sheath), pseudoarthrosis in mid tibia, scoliosis, osteopenia, optic pathway tumors
glial nodules, seizures, mental retardation, sebaceous adenoma, rhabdomyoma of the heart, renal angiomyolipomas, hypomelanotic macules, forehead plaque, subependymal nodules, cortical tubers
Tuberous sclerosis
white forelock, heterochroma iridis, medial eyebrow flair, sensorineural hearing loss. Type 1: dystopia acanthorum (wide set eyes), Type 2: no eye abnl, Type 3: limb abnl, Type 4: Hirschsprung
Waardenburg syndrome
branchial clefts, cochlear malformation, stapes fixation, renal anomalies, ear pits, ear tags, combination hearing loss
Branchiootorenal syndrome
conductive hearing loss, downslanting eyes, no limb anomalies, absent zygomatic arch, no lower lids, no eyelashes, sideburns present
Treacher Collins
conductive hearing loss, ear/limb/renal/cardiac abnormalities, eyelid coloboma, micrognathia
Nager syndrome
congenital deafness with prolonged QT, syncope (check for family Hx), sudden death, mutation in KVLQT1 or KCNE1, heterozygotes will have only the prolonged QT
Jewell and Lange Nielsen
MC aut. recessive cause of hearing loss (sensorineural), retinitis pigmentosa
Usher syndrome
hearing loss, euthyroid goiter, abnormal bony labyrinth (mondini syndrome)
Pendred syndrome
collage defect, predisposition to retinal detachment, cleft palate, osteoarthritis
Stickler syndrome
light skin, hair, and eyes; nystagmus, iris translucency, reduced retinal pigments, foveal hyperplasia
Oculocutaneous albinism
associated with Kallman syndrome, icthyosis (cracked skin), sensorineural hearin loss, contiguous gene deletion
X linked ocular albinism
COPD, exocrine pancreatic insufficiency, steatorrhea, dilated airways, increased susceptibility to DM, dilated bowel loops, failure to pass meconium, infertility, congenital bilateral absence of the vas deferens, failure to thrive, chronic infection, direct hyperbilirubinemia
Cystic fibrosis
full term newborn with respiratory distress, absent lamellar bodies and abnormal vesicular cells, pulmonary HTN
Hereditary surfactant protein B deficiency
AV canal defect?
Down syndrome
Coarctation of the aorta?
Turner syndrome
Supravalvular aortic stenosis?
Williams syndrome
Tetralogy of Fallot?
DiGeorge syndrome
Aortic root dissection?
Marfan syndrome
Prolonged PR interval?
myotonic dystrophy
hypocholesterolemia, cleft palate, ambiguous genitalia, post axial polydactyly, mom often has had prior miscarriage
Smith Lemli Opitz