Smith-Magenis Syndrome Flashcards
1
Q
What is the genetic defect?
A
Deletion of chromosome 17p11.2
2
Q
What are the clinical manifestations of Smith-Magenis Syndrome?
A
- MR
- Speech delay
- Self-injurious behavior
- Sleep disturbance
- Facial dysmorphisms (synophrys (unibrow), brachycephaly, frontal bossing, tented upper lip)
- Hearing loss
- Tooth agenesis