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16 Cards in this Set
- Front
- Back
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Associated conditions w/ Down's Syndrome |
Subendocardial cushion defects - ASD/VSD, AV canal Duodenal atresia, Hirschprung's dz, imperforate anus Hypothyroidism Incr risk of AD, ALL, AML Atlantoaxil instability --> must do an x-ray before sports! |
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Holoprosencephaly, microophthalmia, polydactyl Other assc malformations? |
Trisomy 13- Edward's syndrome Cystic kidneys, VSD |
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Low set ears, prominent occiput, seizures, rocker bottom feet |
Trisomy 18 - Edward's Syndrome |
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Trisomy 18 Px |
50% die w/in 1 week 90% die w/in 1 year Severe MR if they survive |
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Trisomy 13 Px |
80% die w/in 1 month, 95% w/in 6 months |
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Impaired SN hearing, small mandible, high arched palate, motor delay - Dx
Assc malformations? |
Turner's syndrome
Coarc of aorta, bicuspid aortic valve Ovarian dysgeneis |
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Tall boy with motor skill delay & LD, hypogonadism & azoospermia - Dx & Tx |
Klinfelter's - 47, XXY
Give T during puberty |
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Hypotonia, ataxia, microcephaly, large mandible, no speech, epilepsy, flapping hands. Px? |
Angelman's syndrome ("happy puppet") - maternal 15q11-->13 deletion or mutation
Nl life span. Epilepsy often refractory to AED |
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Hypotonia & poor feeding in infancy Precocious puberty, micropenis, sleep disturbances Hyperphagia as teenager |
Prader-Willi Syn: paternal 15q11-->13 deletion or maternal disomy (25%) |
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Tall, severe acne S/t have antisocial beh, incr incidence in prisons |
XYY males |
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Tall female w/ behavioral problems, variable speech / language delays / academic difficulties |
47,XXX: maternal meiotic nondysjunction |
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MR, epicanthal folds, transverse palmar creases, congenital heart dz (not Down's) |
XXXX (tall females) XXXXX (short) |
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Thick webbed neck, pectum excavatum or carinatum, scoliosis, hypotonia, MR, eye problems (strabismus, amblyopia, refractive errors)
Other assc malformations? |
Noonan's syndrome (similar to Turner's, but nl karyotype
Pulmonary stenosis, ASD, hypertrophic cardiomyopathy
Delayed sec maturation, PMOF, 1/2 have undescended testes |
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Triangular face w/ protruding ears, autistic behavior, shy, MR, macroorchidism
Mech of inheritance? |
Fragile X Syndrome
X-linked dominant |
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Hematuria, proteinuria, hearing loss, vision loss |
Alport Syndrome - Type IV collagen mutation = abnl BM in kidney, eye, ear
Kidney dz includes GN, ESRD |
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Potter's Syndrome |
Bilateral renal agenesis, pulmonary hypoplasia
Lethal in utero |
