congenital abnormalities Flashcards
Down syndrome
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
Edwards
trisomy Eighteen mental retarded prominent occiput clenched hands rocker-bttom feet asd / vsd poor prognosis (10% survive to 1) hammer toe
Patau syndrome
trisomy 13 severe mental retardation cleft lip / palette colobomas holoprosencephaly forebrain abnormalities
WAGR
Wilms, aniridia, genitourinary, mental retardation 11p13 deletion (chromosome 11)
Klinefelters
XXY
tall, wide arm span, hypogodadism, gynomastia
psychologic, mental retardation
Turner syndrome
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
Fragile - X
males only repeated sequence on x chromosome mid face problems (hypoplasia) large head, large ears, large testicles mental retardation
Beckwith-Wiedemann Syndrome
beta cell hyperplasia, hyperinsulinemia
large tongue (very large, feeding problems)
omphalocele
tumors in abdomen (ultrasound every six months until six years old)
Prader-Willi
chromosome 15 from father (angelman syndrome if from mother) hypomentia hypogodadism hypotonia obesity binge-eating hypogonadism
Angelman Syndrome
chromosome 15 from mother
“happy puppet”
mental retardation
inappropriate puppet
Waardenburg Syndrome
autosomal dominant older paternal age partial albinism white forelock deafness
Achondroplasia / Hypochondroplasia
autosominal dominant older paternal age short stature (dwarf) short extremity lengths
Marfan
autosoial dominant with wide-variability tall, joint laxity kyphoscoliosis lens dislocation heart disease (mitral valve prolapse and dissecting aneurisms) arachnodactyle no mental retardation
Ehlers-Danlos
autosomal dominant joint laxity fragile skin poor wound healing prematurity no mental retardation very extensible skin
osteogenesis imperfecta
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
Fetal Alcohol Syndrome
8 - 10 drinks a day prenatal and postnatal growth deficiency (symmetric) facies - thin upper lip, smooth philtrum neuromotor delays retardation cardiac - VSD, ASD
Potter Sequence
renal dysgenesis, goes to oligohydramnios, pulmonary hypoplasia, and facial / body features
usually die from respiratory deficiency
low set ears, small chin, bird beak nose
no urine!
Williams syndrome
growth deficiency
mental retardation
“elfin” facies
happy personality
Noonan syndrome
features like turner’s but also seen in boys
pulmonic valvular stenosis
mental retardation (not seen in turners)
VACTERL
vertebral anomalies anal atresia cardiac defects te fistula renal defects limb defects don't have to have all of these!
CHARGE Association
coloboma heart defects atresia choanae retardation of growth genital hypoplasia ear defects / hearing loss
prune belly syndrome
absence of anterior abdominal muscles
genitourinary deftcs
cryptoorchidism
Peutz-Jeghers Syndrome
marks on lips
very high malignancy of colon to remove polyps
