congenital abnormalities Flashcards
1
Q
Down syndrome
A
trisomy 21 duodenal atresia, endocardial cushion defect epicanthal fold wide spaced eyes simian crease slanted eyes brush field spots hypotonic wide space between 1st and 2nd toes low set ears big tongue hypothyroidism atlanto-axial instability leukemias older-maternal age
2
Q
Edwards
A
trisomy Eighteen mental retarded prominent occiput clenched hands rocker-bttom feet asd / vsd poor prognosis (10% survive to 1) hammer toe
3
Q
Patau syndrome
A
trisomy 13 severe mental retardation cleft lip / palette colobomas holoprosencephaly forebrain abnormalities
4
Q
WAGR
A
Wilms, aniridia, genitourinary, mental retardation 11p13 deletion (chromosome 11)
5
Q
Klinefelters
A
XXY
tall, wide arm span, hypogodadism, gynomastia
psychologic, mental retardation
6
Q
Turner syndrome
A
XO short stature lyphadema at birth wide-spaced nipples multiple nevi web neck low posterior hair line no secondary sexual characteristics cardiac - coartation of aorta, bicuspid aortic valve renal disease (horseshoe kidney) hypothyroid
7
Q
Fragile - X
A
males only repeated sequence on x chromosome mid face problems (hypoplasia) large head, large ears, large testicles mental retardation
8
Q
Beckwith-Wiedemann Syndrome
A
beta cell hyperplasia, hyperinsulinemia
large tongue (very large, feeding problems)
omphalocele
tumors in abdomen (ultrasound every six months until six years old)
9
Q
Prader-Willi
A
chromosome 15 from father (angelman syndrome if from mother) hypomentia hypogodadism hypotonia obesity binge-eating hypogonadism
10
Q
Angelman Syndrome
A
chromosome 15 from mother
“happy puppet”
mental retardation
inappropriate puppet
11
Q
Waardenburg Syndrome
A
autosomal dominant older paternal age partial albinism white forelock deafness
12
Q
Achondroplasia / Hypochondroplasia
A
autosominal dominant older paternal age short stature (dwarf) short extremity lengths
13
Q
Marfan
A
autosoial dominant with wide-variability tall, joint laxity kyphoscoliosis lens dislocation heart disease (mitral valve prolapse and dissecting aneurisms) arachnodactyle no mental retardation
14
Q
Ehlers-Danlos
A
autosomal dominant joint laxity fragile skin poor wound healing prematurity no mental retardation very extensible skin
15
Q
osteogenesis imperfecta
A
autosomal dominant type II is lethal lots of other types defect in production of type 1 collagen fractures and bruises "blue sclerae" deformities when bones heal
