Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype

Chitty LS, McCrimmon R, Temple IK, Russell-Eggitt IM, Baraitser M. Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype. Am J Med Genet. 1991 Sep 15;40(4):417-20.