Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
Definition
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterized by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.