Cong disorders trigger Flashcards
Presents with distal digital hypoplasia and spina bifida
anticonvulsant use
Distal digital hypoplasia = phenytoin
spina bifida = VPA
can also see:
small head
anteverted nares
cleft lip/palate
presents with anteverted nares, cleft lip/palate and small head
anticonvulsant use in preganncy
can also see:
Distal digital hypoplasia = phenytoin
spina bifida = VPA
presents with small/absent ears and tracheoesophageal fistula
retinoid/accutane
can also see:
CHD
CNS malfomation
developmental toxicity
presents with irritability/seizures, agitation, tremors, and hypertonia
SSRI use in pregnancy
also see:
increased respirations, nasal congestion, D/V, feeding dificulty
increased respirations, nasal congestion, D/V, feeding dificulty
SSRI use in pregnancy
also see;
presents with irritability/seizures, agitation, tremors, and hypertonia
presents with flattened philtrum, thin uppper lip and short nose
Fetal alcohol syndrome
also see;
cardiac abnormalities, NTD, midface hypoplasia, poor head growth, shortness. neurobehavioral issues
cardiac abnormalities, NTD, midface hypoplasia, poor head growth, shortness. neurobehavioral issues
Fetal alcohol syndrome
also see:
flattened philtrum, thin upper lip and short nose
presents with depression, hyperactivity, impulsivity, inattention, delinquincy
marijuana use in pregnancy
ADHD symptoms
presents as low birth weight, prematurity, IUGR
opiate maternal use
this medication has a log half life and therefore takes longer to present with withdrawal symptoms
benzo/barb
how do you diagnose neonatal abstinence syndrome
- blood tests, urine tox, meconium analysis, hair samples
- NAS scoring using Finnegan CNS scores
morphine or methadone is first line tx for this
NAS
also use phenobarbital for seizures and fentanyl for analgesia
how is marfan’s inheritied
autosomal dominant
hypotonia, flattened head and nasal bridge, single palmar crease
down syndrome
also see;
upslanting of palpebral fissures, epicanthal folds and large protruding tongue
upslanting of palpebral fissures, epicanthal folds and large protruding tongue
down syndrome
also see:
hypotonia, flattened head and nasal bridge, single palmar crease
this cong disorder increases risk of leukemia, polycythemia, thyroid disease, CHD and GI anomalies (celiac)
down syndrome
labs show increased hcg and inhibin A and decreased estriol and AFP
down syndrome and turners syndrome
labs show low estriol and very low hcg but normal inhibin A and AFP
endawrds syndrome (trisomy 18)
clenched fists, rounded feet, low birth weight and cardiac defects are all signs of what?
trisomy 18 (edwards syndrome)
most die by age 1:(
characterized by cutis aplasia and abnormalities in almost every organ system
trisomy 13 (patau’s syndrome)
tall thin males with gynecomastia and gonadal dysgenesis
klinefelter syndrome (XXY)
normal pubic hair
usually infertile
tx with testosterone replacement therapy
klinefelter syndrome (XXY)
low set/malformed ears, flat nasal bridge, webbed neck and shield chest
turner syndrome
also see;
traingle facies
aortic valve defects (coarctation)
horseshoe kidney
infertility
coarctation of aorta and horseshoe kidney is commonly seen in these patients
turner syndrome
high risk of aortic dissection with pregnancy in these patients
turners syndrome (2/2 coarctation)
tx with estrogen therapy and growth hormones
turners syndrome
what types of chromosomal alterations can klinefelter syndrome have
XXY
XXXY
XXXXY
more X’s = more intellectual impairement
what gene is mutated in marfans syndrome
fibrillin 1 gene on chromosome 15q21.1
flat footed, pectus excavatum/carinatum, and down slant palpebral fissures are for what disease
marfans syndrome
also see:
cataracts, dislocated lense, scoliosis and joint laxity are seen in what dx
marfans syndrome
ghent criteria is used for what syndrome
marfans
tx includes losartan, BB and frequent eye exams
marfans
also frequent ECHOs!!! to assess for aortic dissection
in this syndrome you MUST restrict strenuous exercise
marfans
what gene is responsible for fragile X syndrome
FMR 1 gene!
mc inhereted cause of mental retardation/cog disability in males
mc inhereted cause of mental retardation/cog disability in males
fragile X syndrome
oblong face, large ears, large testis and hyperextensible joints
fragile X syndrome
(also has MVP)
tx with genetic counseling, behavioral therapy, psych/developmental specialists
fragile X syndrome
remember most these guys are prisonnnnn
what gene is CF inherited on
Gene located on long arm of Chromosome 7 - CFTR
this leads to increase salt content in sweat glands
CF
cannot move Na and Cl properly = increased mucous
Ileus, volvulus, intussusception, Infertility, Digital clubbing
complications of CF
also obv high susceptibility to respiratory infections and rhinitis
positive sweat chloride test using pilocarpine
CF
Fecal elastase to measure pancreatic insufficiency
CF
Pancreatic enzyme replacement therapy (PERT) as tx
CF
must avoid aspartame and eat a lower protein diet
PKU
X linked recessive disease
DMD
calf hypertrophy, gowers sign and pointing of toes
DMD
proximal muscle weakness and elevated CK
DMD
tx is corticosteroids
DMD
most die in 20s d/t resp or cardiac dz
Joint hypermobility, cutaneous fragility, hyperextensibility with Aortic aneurysms, valvular prolapse, or spontaneous pneumothorax
Ehler’s danlos syndrome
when is the beighton scoring system used
to measure joingt hypermobility (enhlers danlos)
