1Trisomies are associated with
abnormality in chromosome number
2Prader Willi is a
non-mendelian disroder
3A women pregnant at 45 has a _____ chance of having a child with down syndrome?
1 in 30
4What are the 3 nearly universal features of DS?
up slanting palpebral fissures
epicanthic folds
brachycephaly
5What is a common extremity feature with DS?
transverse palmar crease
6What are two common features of newborns with DS?
hypotonia
poor moro reflex
7What are the cardiact complications assicated with DS?
ASD (most common)
VSD
8What are the GI anomalies associated with DS?
duodenal atresia (MC
celiac disease
9In kids with DC they have lower __, ___ and ___ when they are born
weight
length
HC
10What is common by age 3/4 in kids with DS?
obesity
11What hearing anomaly is common with DS kids?
otitis media
12What visual impairment is common in kids with DS?
strabismus
13Kids with DS are more likely to have ___thyroidism and type ___ DM?
hypo
1
14Kids with DS are also more at risk for?
ALL
15When it comes to axial skeleton kids with DS are more prone to
excessive mobility of C1 and C1 leading to subluxation
16Trisomies are associated with
abnormality in chromosome number
17Trisomies are associated with
abnormality in chromosome number
18What do you need to do for DS in infancy?
audiogram at age 1
ophth at 6 months
thyroid testing at 6 and 12 months
19What should be done for DS patients in early childhood
vision checked at each visit
ophth every 2 years
cervical spin x ray at 3-5 years
yearly thyroid screening
OSA check
celiac check
20What should be done for DS patients in late childhood?
annual hearing/opth and thyroid
21What should be checked in adolescense in kids with DS?
CBC
TFTs
auditory/opth
22When should you begin monitoring for cognitive decline in patients with DS?
after 40
23What is Edward's syndrome?
3 copies of chromosome 18
24What are common findings in trisomy 18?
IUGR
hypertonicity
micrognathia
rocker bottom feet
25Majority of kids with trisomy 18 die
in utero
26Patients with turner syndrome are more likely to develop?
obesity
insulin resistance
type 2 DM
hypothyroidism
27What are some s/s of turnery syndrome?
webbed neck
congenital lyphadema in neonate
short stature
failure to develop breasts
28Klinefelter syndrome is
a male with an extra x chromosome
29When is diagnosis for klinfelter syndrome made?
puberty (rarely made before)
30Fetal alcohol syndrome has a wide range of affects that can put a child at risk for?
school problems
incarceration
homelessness
substance abuse
chronic mental health problems
31Fetal alcohol syndrome has a wide range of affects that can put a child at risk for?
school problems
incarceration
homelessness
substance abuse
chronic mental health problems
32Fragile x syndrome is
x linked
33What are some s/s that you might find with fragile x syndrome?
oblong facies
large ears
post pubertal macro-orchidism
mod intellectual disability
34Most fragile X syndrome patients meet the cristeria for?
autism spectrum disorder
35Fragile X patients have issues with?
coordination
36Marfan syndrome is an inherited disorder of
connective tissue
37How is the daignosis of marfan syndrome made?
aortic root dilation using z scores
ectopic lentis
FBN1 mutation
38How does the lens usually look with ectopia lentis?
diplaced upward
39What are the 2 signs assocaited with marfan syndrome?
thumb sign
wrist sign
40Patients with marfan syndrome usually have an arm span to height ratio that is?
increased
41What is the most common form of syndromic obesity?
prader-willi syndrome
42infants with prader-will syndrome present with?
low tone
feeding problems
failure to thrive
43Older children with prader willi syndrome present with?
voracious appetite
short stature
hypogonadism
44Patients with prader willi syndrome are at high risk for?
OSA
45Fetal alcohol syndrome is assicated with significant alcohol exposure in the
11st trimester
46Kids with fetal alcohol syndrome have characteristic facial deformities such as
short palpebral fissue
thin vermillion border
smooth philtrum
47Fetal alcohol syndrome has a wide range of affects that can put a child at risk for?
school problems
incarceration
homelessness
substance abuse
chronic mental health problems