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63 Cards in this Set
- Front
- Back
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musty odor, hypopigmentation, seizure, retardation, developmental delay, microcephaly, eczema, if congenital watch out for heart defects
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PKU
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lethargy, refusal to feed, grunts, rapid RR, seizure coma, cerebral edema, respiratory failure
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male neonate with OTC def
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self protein restriction, cyclic vomiting, HA, slurred speech, ataxia
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female neonate with OTC def
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hyperacusis (increased startle), hypotonia, cerebral and macular degeneration, cherry red spot on macula, progressive neurodegeneration, seizure, blindness, death by age 4
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Tay Sachs
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hepatosplenomegely, bone dz (femoral head erosions), anemia, thrombocytopenia, lung dz, fish skin, hydrops, calcified heart valves, supranuclear ophthal
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Gaucher dz
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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
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Fetal Alcohol Syndrome
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chondrodysplasia punctata, nasal bridge hypoplasia, hemorrhage
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Warfarin teratogenicity
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meatal stenosis, hypospadias, cryptochordism, vaginal adenosis and adenocarcinoma in mom
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DES teratogenicity
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Ebstein's anomaly of triscupid valve
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Lithium teratogenicity
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CNS, ear, mental retardation, abortifecent
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Accutane teratogenicity
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growth and mental retardation, cardiac anomalies, skeletal and limb defects, cleft palate, characteristic facies, arched eyebrow, nail hypoplasia
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Hydantoin teratogenicity
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characteristic facies, cardiac and lib detects, spina bifida, cleft lip
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Valproate teratogenicity
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microphthalmia, cataracts, PDA, pulmonic stenosis, deafness, microcephaly, immune and endocrine deficiencies
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Congenital rubella
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hydrocephalus, IUGR, chorioretinitis, deafness, seizure, intracranial calcification
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Congenital CMV
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hydrocephalus, chorioretinities, deafness, intracranial calcification
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Congenital toxoplasma
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macrosomia, polycythemia, coloboma, VSD, spina bifida, sacral agenesis, holoprosencephaly, decreased perfusion of lower extremities, sirenomelia (persistence of vitelline artery), caudal regression
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Fetal effects of maternal DM
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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
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Osteogenesis Imperfecta type I
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perinatal lethal from respiratory failure, dark sclerae, beaked nose, soft calvarium, beaded ribs, bowed legs, flat vertebral bodies, small thoracic cavity
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Osteogenesis Imperfecta type 2
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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
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Osteogenesis Imperfecta type 3
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nl sclerae, dentinogenesis imperfecta is common, hearing loss
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Osteogenesis Imperfecta type 4
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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
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Ehlers Danlos type 1
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type 2: less severe than type 1
type 3: soft but not hyperextensible skin, mutation in COL5A1 |
Ehlers Danlos
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vascular or ecchymotic, visible venous patterns, marked bruising, arterial rupture, colon rupture, uterine rupture, mutation in COL3A1
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Ehlers Danlos type 4
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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
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Marfan syndrome
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rhizomelia (proximal limb shortening), limitation of elbow extension, trident configuration of hands, genu varum, lumbar lordosis, macrocephaly with frontal bossing, foramen magnum tightening
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Achondroplasia
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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
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Down syndrome
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holoprosencephaly, microphthalmia, coloboma, microcephaly, post axial polydactyly, cleft palate, hypogenitalism, low ears, horseshoe kidney. ASSOCIATED WITH ADVANCED MATERNAL AGE
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Trisomy 13 (Patau syndrome)
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triangular facies, pointy ears, small mouth, micrognathia, hypertonia, flexion deformity of fingers, rocker bottom feet, overlapped fingers, short sternum, omphalocele, heart defects
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Trisomy 18 (Edwards syndrome)
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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
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Turner syndrome
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eunuchoid, tall stature, gynecomastia, infertile, impaired language and reading, post pubertal testicular failure
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Klinefelter syndrome
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round face, hypertelorism, low set ears, mental retardation, shrill cry
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Cri du Chat
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hypotonia, undescended testis, hyperphagia, obesity, OCD, almond eyes, carp shaped lips, partial albinism, narrow bifrontal diameter, upslanting palpebral fissures
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Prader Willi
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ataxia, inappropriate laughter, prominent jaw, side mouth, pointed chin, thrusting tongue, flapping hands, jerky movement, hypopigmentation, no speech
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Angelman syndrome
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supravalvular aortic stenosis, triangular facies, long philtrum, hyperCa, prominent lips, cocktail party behavior, ADD, anxiety, can't draw, periorbital fullness, starburst iris
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Williams syndrome
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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
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DiGeorge
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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
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Fragile X
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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)
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Myotonic dystrophy
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dysarthria, ataxia, sesory axonal polyneuropathy, cardiomyopathy
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Friedrich ataxia
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onion bulbing
Type 1: decreased NCV, polyneuropathy, distal muscle weakness, absent DTRs, high arched foot Type 2: nl NCV |
Charcot Marie Tooth
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reduced NCV, episodic palsies precipitated by trauma/compression, carpal tunnel, sausage thickening of myelin sheath
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HNPP
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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
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Rett syndrome
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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
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Gardner syndrome
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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
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Neurofibromatosis
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glial nodules, seizures, mental retardation, sebaceous adenoma, rhabdomyoma of the heart, renal angiomyolipomas, hypomelanotic macules, forehead plaque, subependymal nodules, cortical tubers
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Tuberous sclerosis
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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
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Waardenburg syndrome
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branchial clefts, cochlear malformation, stapes fixation, renal anomalies, ear pits, ear tags, combination hearing loss
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Branchiootorenal syndrome
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conductive hearing loss, downslanting eyes, no limb anomalies, absent zygomatic arch, no lower lids, no eyelashes, sideburns present
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Treacher Collins
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conductive hearing loss, ear/limb/renal/cardiac abnormalities, eyelid coloboma, micrognathia
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Nager syndrome
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congenital deafness with prolonged QT, syncope (check for family Hx), sudden death, mutation in KVLQT1 or KCNE1, heterozygotes will have only the prolonged QT
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Jewell and Lange Nielsen
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MC aut. recessive cause of hearing loss (sensorineural), retinitis pigmentosa
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Usher syndrome
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hearing loss, euthyroid goiter, abnormal bony labyrinth (mondini syndrome)
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Pendred syndrome
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collage defect, predisposition to retinal detachment, cleft palate, osteoarthritis
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Stickler syndrome
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light skin, hair, and eyes; nystagmus, iris translucency, reduced retinal pigments, foveal hyperplasia
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Oculocutaneous albinism
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associated with Kallman syndrome, icthyosis (cracked skin), sensorineural hearin loss, contiguous gene deletion
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X linked ocular albinism
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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
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Cystic fibrosis
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full term newborn with respiratory distress, absent lamellar bodies and abnormal vesicular cells, pulmonary HTN
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Hereditary surfactant protein B deficiency
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AV canal defect?
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Down syndrome
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Coarctation of the aorta?
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Turner syndrome
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Supravalvular aortic stenosis?
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Williams syndrome
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Tetralogy of Fallot?
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DiGeorge syndrome
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Aortic root dissection?
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Marfan syndrome
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Prolonged PR interval?
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myotonic dystrophy
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hypocholesterolemia, cleft palate, ambiguous genitalia, post axial polydactyly, mom often has had prior miscarriage
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Smith Lemli Opitz
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