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
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