clinical features

Last reviewed 01/2018

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