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