Clinical features
Features include:
- low birthweight
- short stature
- frontal bossing and a triangular face - pixie-like features
- a relative macroencephaly
- body asymmetry - hemihypertrophy in 50%
- small hands and short 5th finger in 75%
- mental retardation in 20%
- cryptorchidism
- primary gonadal failure
- hypospadias
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