- This topic has 0 replies, 1 voice, and was last updated 3 years, 8 months ago by .
Viewing 0 reply threads
Viewing 0 reply threads
Tagged: Down Syndrome
○ Genetic pathophysiology?
■ maternal nondisjunction (failure to separate in meiosis I or II)
■ Robertsonian translocation (RT)
○ Early onset neuro dz? Alzheimer dz (presenilin is on chromosome 21)
○ Classic hematologic malignancy? ALL (TdT positive)
■ “ALL fall Down”
○ Considerations before beginning sports? Cervical XR to screen for atlanto-axial instability
○ Hand findings? Single palmar crease
○ Common cardiac defect? Endocardial cushion defects (endocardial cushion derived from neural crest)
○ Common GI defects?
■ Hirschprung’s
■ duodenal atresia (bilious vomiting, double bubble)
■ pyloric stenosis (first 8 weeks of life, non-bilious vomiting, olive-shaped mass, erythromycin exposure increases risk)
○ Maternal quad screen findings
■ High beta-hcg & inhibin A
■ Low AFP & estriol
■ “HIGH” → hCG & inhibin are high
Email : drsinghmedinfo@gmail.com
Copyright © 2021 Dr Singh Medicine. All Rights Reserved.