Fetal Syndromes 3 Flashcards
Meckel Gruber syndrome is also known as?
Meckel syndrome, dysencephalia splanchnocystica
Meckel Gruber is what type of genetic disorder?
autosomal recessive
Characteristics associated with Meckel Gruber syndrome
infantile polycystic kidneys, occipital encephalocele, polydactyly
Eagle Barrett syndrome is also known as?
prune belly syndrome
Eagle Barrett syndrome is associated with what urinary anomaly?
Posterior urethral valves
Characteristics associated with Eagle Barrett syndrome
megacystis, laxity, cryptorchidism
Beckwith Wiedemann syndrome is associated with abnormal genes in which chromosome?
11
Characteristics of Beckwith Wiedemann syndrome
visceromegaly, macrosomia/hemihypertrophy, macroglossia
Pentalogy of Cantrell
diaphragmatic hernia, ectopia cordis, abdominal wall defect, heart defect, deficient pericardium
What are the pathognomonic anomalies of the Pentalogy of Cantrell?
ectopia cordis and omphalocele
Maxillary gap is associated with which syndrome?
Pentalogy of Cantrell
Caudal regression syndrome is also called?
Caudal aplasia, dysplasia sequence, sacral agenesis
Caudal regression syndrome is associated with what maternal disorder?
maternal diabetes
What is caudal regression syndrome?
partial or complete absence of L-S spine and coccyx
Sirenomelia is also called?
mermaid syndrome, sirenomelia sequence
What is sirenomelia?
fusion of the lower limbs
True or False: Fetal alcohol syndrome can be diagnosed sonographically
False
A smooth philtrum is associated with which syndrome?
fetal alcohol syndrome
What causes amniotic band syndrome?
partial rupture of amnion
Amniotic band syndrome is also called?
ADAM complex
ADAM complex
amniotic deformity, adhesions, mutilations
Holt Oram syndrome is also called?
heart hand syndrome
Holt Oram syndrome is what kind of genetic condition?
autosomal dominant
Characteristics of Holt Oram syndrome
congenital heart defects, ASD, radial anomalies, thumb aplasia, phocomelia
