title: Dominantly inherited syndrome comprising partially absent eye muscles, hydrocephaly, skeletal abnormalities, and a distinctive facial phenotype.
authors.affiliation: Department of Paediatric Genetics, Hospitals for Sick Children, London, England.
authors.forename: L S
authors.initials: LS
authors.lastname: Chitty
authors.forename: R
authors.initials: R
authors.lastname: McCrimmon
authors.forename: I K
authors.initials: IK
authors.lastname: Temple
authors.forename: I M
authors.initials: IM
authors.lastname: Russell-Eggitt
authors.forename: M
authors.initials: M
authors.lastname: Baraitser
mesh_terms: D000015:Abnormalities, Multiple; D000867:Anterior Chamber / Q000002:abnormalities; D001842:Bone and Bones / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D009801:Oculomotor Muscles / Q000002:abnormalities*; D010641:Phenotype; D013577:Syndrome