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What is the congenital abnormality where the cranial vault does not form?
Anencephaly
What is a cloverleaf skull and which condition is it associated with?
where the skull is caved in on 2 sides: Thanatophoric dysplasyia
Uncontrolled diabetes can play a role in the development of which disorder?
Sirenomelia (Mermaid Syndrome)
What are the names of the long bones in the body?
humerus, femur
The term frog-like face is associated with which condition?
anencephaly
Which condition is also known as “mermaid syndrome”?
sirenomelia
Sirenomelia is associated with
bilateral renal agenesis
What is polydactyly?
more than 5 digits are present
When is anencephaly diagnosed?
15 weeks usually by 12
How does the fetal spine appear on ultrasound?
railroad tracks
What is the best scanning plane for the fetal spine?
trans
What does a longitudinal and transverse spine look like on an ultrasound?
long- stretched out, railroad tracks, sacral tapering, integrity of skin line
trans- integrity of skin line, lie of vertebral ossification centers
What is lethal skeletal dysplasia and what else do you expect to see on ultrasound?
severe micromelia (shortened long bones), presence of a specific feature of a lethal abnormality, severe hypoplastic thorax/ thoracic cavity. Bell shaped chest in coronal, champagne cork in long
What is the term for shortening of the proximal segment of an extremity?
rhizomelia
What is the prognosis for severe hypoplastic thoracic cavity?
fatal- lungs can’t develop
What is syndactyly?
fusion of digits
What is amelia?
absence of an entire extremity
What is phocomelia?
absent segment of an extremity
What is acromelia?
shortening of distal segment of an extremity (foot, hand)
What is mesomelia?
shortening of middle segment of an extremity (rad/uln,tib/fib)
What is micromelia?
shortened extremities