Russell-Silver

Main features: prenatal growth retardation with normal head circumference and asymmetry of limbs; liability to fasting hypoglycemia

• 7p11.2; most cases are sporadic, but there is a possibility that it may be autosomal dominant in some familyes.
• General: normal intelligence, short stature, normal head circ. with prenatal growth retardation (pseudohydrocephalus). Occasional cases have very severe form with developmental delay.
• Facies: Triangular facies with frontal bossing, blue sclerae, thin lips w/ downturned corners, micrognathia
• Skin: cafe-au-lait spots, excess sweating
• Extr: clinodactyly, asymmetry of limbs
• Disease associations: liability to fasting hypoglycemia (from 1-3 years of age)