Clinical features
These include:
- females affected more than males
- mental retardation
- facies:
- microcephalic with prominent occiput
- low set, dysplastic ear
- crowded face with micrognathia and small eyes
- limbs:
- flexed fingers with overlapping index and fifth finger, rockerbottom feet
- cryptorchidism
- short sternum
- cardiac:
- especially ventricular septal defect
- low birth weight
- apnoea, which can be the actual cause of death
Related pages
Create an account to add page annotations
Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page