Genetics Flashcards
1
Q
What features may be seen in acrocephalopolysyndactyly?
A
- Tall forehead
- Polydactyly
- Syndactyly
2
Q
What conditions are described by Pierre-Robin sequence?
A
Small chin->
Cleft palate
3
Q
What conditions are described by Fetal akinesia sequence?
A
Reduced fetal movement-> Reduced breathing-> Contractures-> Clefting -> Lung hypoplasia
4
Q
What is the meaning of deformation in genetic abnormality?
A
Organ parts are there, but abnormal
5
Q
What is the meaning of disruption in genetic abnormality?
A
Parts of organ/body part absent
6
Q
What is the meaning of sequence in genetic abnormality?
A
One abnormality leads to another
7
Q
What anomalies are present in VATER association?
A
V-vertebral/VSD A-anorectal atresia T-tracheo- E(o)esophageal fistula R-radial anomalies
