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29 Cards in this Set
- Front
- Back
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Down syndrome
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trisomy 21
upward slanting palpebral fissures speckled iris (Brushfeld spots) inner epicantal fold simian crese ECD > VSD > PDA duodenal atresia increased cardiovascular disease, ALL, early Alzheimer |
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Edwards syndrome
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low-set malformed ears
clenched fists rocker-bottom feet omphalocele VSD, ASD, PDA most die in first year |
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Patau syndrome
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trisomy 13
holoprsencephaly + CNS defects microcephaly microphthalmia cleft lip/palate scalp defects polydactyly |
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WAGR
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deletion of 11p13
Wilms tumor + aniridia + GU anomalies + retardation |
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Klinefelter
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XXY
retardation decreased upper:lower segment ratio with long limbs eunochoid hypogonadism gynecomastia |
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Turner
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X0
small stature female gonadal dysgenesis (not evident in childhood) low IQ congenital lymphedema broad chest and widely spaced nipples webbed neck horseshoe kidney bicuspid aortic valve coarctation |
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fragile X syndrome
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CGG repeat on chromosome X
mild o profound mental retardation macrocephaly large ears macroorchidism |
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Beckwith-Wiedemann syndrome
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macrosomia
macroglosia pancreatic beta cell hyperplasia --> hypoglycemia fetal adrenocortical cytomegaly omphalocele hemihypertrophy linear fissures in lobule of external ear management --> ultrasound and serum AFP every 6 months until 6y/o looking for WIlms tumor and hepatoblastoma |
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Prader-Willi syndrome
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paternal 15q deletion
obesity hypogonadism hypotonia retardation food-related behavioral problems small hands and feet |
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Angelman
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maternal 15q deletion
severe retardation inappropriate laughter absent speech puppet gait (ataxia, jerky arm movements) |
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Robin sequence
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micrognathia
glossoptosis cleft soft palate watch out for airway obstruction |
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Waardenburg syndrome
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lateral displacement of inner canthi with short palpebral fissures
partial albinism deafness |
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achondroplasia
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AD 90% from new gene mutation for fibroblast growth factor receptor 3
short stature megalocephaly, small foramen magnum (hydrocephalus), short cranial base and prominent forehead lumbar lordosis normal intelligence small eustachian tube with otitis media and hearing loss |
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marfan
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AD mutation in fibrillin gene with variability
tall stature, long limbs arachnodactyly joint laxity with kyphoscoliosis lens subluxation (suspensory ligament) ascending aortic dilation with or without aneurysm |
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Ehlers-Danlos syndrome
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droopy ears
hyperextensible skin with easy bruisability, poor wound healing joint hyperlaxity (dislocations) aortic root dilation aneurysms (aortic, cranial) blue sclera ectopia lentis |
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osteogenesis imperfecta
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decreased synthesis of procollagen
growth deficiency hypoplasia of dentin and pulp --> translucent teeth blue sclera bowing of limbs scoliosis, kyphosis fractures hyperextensible joints hearing impairment secondary to otosclerosis |
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fetal alcohol syndrome
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growth deficiency
retardation hyperactivity behavioral abnormalities joint abnormalities VSD > ASD |
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fetal hydantoin syndrome
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similar to carbamazepine
hirsutism cupid's bow lips |
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fetal valproate syndrome
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midface hypoplasia
cardiac defects meningomyelocele cleft lip |
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retinoic acid embryopathy
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bilateral anotia
facial nerve paralysis truncal malformations CNS malformations |
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females on isotretinoin
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pregnancy screening
one definitive method of birth control back-up method of birth control counseling |
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Potter sequence
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renal agenesis --> oligohydramnios --> fetal compression --> pulmonary hypoplasia
Potter facies death from respiratory insufficiency screen parents with ultrasound because 9% have asymptomatic malformations |
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Williams syndrome
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friendly, talkative personality
hoarse voice elfin facies with prominent lips and open mouth supravalvular aortis stenosis renal artery stenosis with hypertension hypercalcemia |
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Noonan syndrome
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short stature
retardation short webbed neck pectus excavatum pulmonary valvular stenosis cryptorchidism |
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VACTERL association
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Vertebral defects
Anal atresia Cardiac defects (VSD) TE fistula esophageal atresia renal defects limb defetcs |
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CHARGE association
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Coloboma
Heart defects (TOF, PDA) Atresia choanae Retardation of growth Genital hypoplasia Ear abnormalities/deafness |
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prune belly syndrome
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95% males
GU defects absence of anterior abdominal wall muscles cryptorchidism |
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Peutz-Jeghers
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AD, 50% spontaneous mutations
pigmentation and polyps colored spots on lips, oral mucous membranes and periorally polyps in jejunum, nasopharynx and bladder clubbing of fingers |
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multiple lentigines syndrome
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LEOPARD
Lentigines EKG abnormalities Ocular hypertelorism Pulmonary stenosis Abnormalities of genitalia (hypogonadism, cryptorchidism) Retardation of growth Deafness |
