Syndromes Flashcards
What is seen in people with tri-21? (11)
mild ventriculomegaly nuchal thickening echogenic foci atrioventricular canal defect duodenal atresia echogenic bowel mild pyelectasis widened iliac angle shortening of femur and humerus clinodactyly of 5th digit (inward curvature) sandal gap toes
What is seen in people with people with tri-18?
IUGR strawberry shaped head choroid plexus cysts enlarged cisterna magna ventricular/atrial septal defect congenital diaphragmatic hernia omphalocele persistent clenching of hands w/ overlapping digits rocker bottom feet clubfoot
What’s the most common chromosomal abnormality associated with choroid plexus cysts?
tri-18
What is seen in people with tri-13?
IUGR
microcephaly
holoprosencephaly
facial defects (cleft lip, ocular abnormalities, nose abnormalities)
cardiac anomalies
GU (not sure what I was writing here…genitourinary anomalies?)
polydactyly
What is the most common GU abnormalitiy with tri-13?
cystic renal dysplasia
Triploidy + Turner’s syndrome is a/w maternal age. True or false
False
What is seen in people with Turner’s syndrome? (D.45, XO:)
fetal hydrops
cystic hygroma
cardiac anomalies (coarctation of the aorta)
What is seen in those with Noonan’s syndrome?
facial characteristics short stature heart defects bleeding problems skeletal malformations
What’s the most common heart defect in Noonan’s syndrome?
pulmonary valve stenosis
What is seen in those with triploidy?
IUGR holoproscencephaly polydactyly short femur (60%) molar pregnancies
Pentalogy of Cantrell:
omphalocele congenital diaphragmatic hernia ectopia cordis heart defect pericardial defects
Beckwidth-Wiedemann Syndrome:
"overgrowth syndrome" macrosomia omphalocele renal neoplasm macroglossia
also abdo wall defects
What is seen in people with Meckel Gruber syndrome?
enlarged cystic kidneys
occipital encephalocele
polydactyly
liver fibrosis
Those with Meckel Gruber syndrome can live to adulthood. True or false
False
Walker Warburg syndrome affects:
muscles, brain + eyes
Congenital muscular dystrophies:
most severe form of genetic conditions which causes muscles weakness and atrophy
What syndrome is described as “floppy” muscles
Walker Warburg
Smith Lemli Opitz Syndrome is characterized by:
distinctive facial features
microcephaly
intellectual disabilities
behavioural problems (autism)
During a scan of a 22-week pregnant patient you note the following fetal abnormalities: strawberry-shaped skull, enlarged cisterna magna, omphalocele, and persistent overlapped and clenched digits. What is the most likely diagnosis?
Tri18
What is the most common chromosomal abnormality?
tri21
What is the most common cardiac anomaly associated with Trisomy 21?
endocardial cushion defect
Which of the following syndromes is associated with strawberry shaped skull?
tri18
Prenatal findings including short stature, scoliosis, and a protruding chest would suggest which of the following syndromes?
Noonan’s syndrome
Which of the following syndrome(s) is associated with fetal hydrops?
Turner’s syndrome + tri21
Cystic kidneys, polydactyly, and encephalocele are the classic triad of findings for which of the following syndromes?
Meckel-Gruber syndrome
Cobblestone lissencephaly is associated with which of the following syndromes?
Walker Warburg
