title: Frontonasal "dysplasia," cerebral anomalies, and polydactyly: report of a new syndrome and discussion from a developmental field perspective.
abstract: We describe a boy with frontonasal "dysplasia"; cerebral anomalies, including agenesis of corpus callosum and probable Dandy-Walker malformation (absent superior vermis, hypoplastic cerebellum and brain stem, and possible posterior fossa cyst in this case); short neck, relatively long trunk with short limbs; cryptorchidism; and polydactyly of hands and feet. We suspect he has a previously undescribed syndrome of presently unknown cause. We also discuss this case from a developmental field perspective, in view of the unusual combination of cerebral and facial defects.
authors.affiliation: Blodgett Memorial Medical Center, Genetics/Birth Defects/Neurology Clinic, Grand Rapids, MI 49506.
authors.forename: H V
authors.initials: HV
authors.lastname: Toriello
authors.forename: L L
authors.initials: LL
authors.lastname: Radecki
authors.forename: J
authors.initials: J
authors.lastname: Sharda
authors.forename: D
authors.initials: D
authors.lastname: Looyenga
authors.forename: R
authors.initials: R
authors.lastname: Mann
mesh_terms: D000015:Abnormalities, Multiple; D001921:Brain / Q000002:abnormalities*; D002871:Chromosome Banding; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009666:Nose / Q000002:abnormalities*; D013577:Syndrome