genetic dz/syndrome Flashcards
(21 cards)
Downs- heart
VSD, endocardial cusion defects
Downs - GI
hirshsprungs, intestinal atresia, imperforate anus, annular pancreas
Downs - endocrine
hypothyroidism
Downs - msk
atlanto-axial instability
Downs - neuro
alzheimers by 30-35
downs - cancer
10x increased risk ALL
cafe-au-lait, seizures, large head
neurofibromatosis (AD)
mandibular hypoplasia, gloccoptosis, cleft soft palate (FAS or Edwards)
Pierre Robin sequence
broad, square face short statue, self-injurious behavior, ch17 deletion
Smith Magenis
hypotonia, hypogonadism, hyperphagia, skin picking, aggression
Preder Willi (deletion paternal ch15)
seizures, strabismus, sociable w/episodic laughter,
angelman (deletion maternal ch15)
elfin-appearance, friendly, increased empathy and verbal reasoning
Williams (ch 7 deletion)
oomphalocele, rocker-bottom feet/hammar toe, microcephaly, clenched hand,
Edwards (trisomy 18)
holoprosencephaly, severe MR, microcephaly, claft lip/palate
Patau’s (trisomy 13)
14 yo girl w/no breast development, short, high FSH
Turners (XO, MC genotype aborted fetuses)
Turners - associated anomalies
horshoe kidney, coarctation aorta, bicuspid aortic valve
18 yo tall lanky boy with mild MR, gynecomasia, hypogonadism
Klinefelter’s syndrome (increased risk gonadal malignancy)
IUGR, hypertonia, distinctive facies, limb malformation, SIB, hyperactive
Cornelia de Lange
microcephaly, smooth philtrum, thin upper lip, ADHD, most common cause MR
FAS
most common type MR in boys, CGG repeats on X-ch with anticipation, macrocephaly, macroorchidism, large ears
Fragile X
AD, assoc with advanced pternal age, short palpebral fissues, white forelock, deafness
Waardenburg
