title: Ocular colobomata, polydactyly, cleft palate and panhypopituitarism: a new syndrome.
abstract: We describe a male patient with ocular colobomata, cleft palate, polydactyly, panhypopituitarism and possible craniosynostosis, whom we have followed for 30 years. Although there are some similarities to other documented syndromes, this previously unreported combination of features appears to constitute a new syndrome.
authors.affiliation: Department of Ophthalmology and Visual Sciences, Royal Adelaide Hospital Department of Pediatrics, University of Adelaide, Adelaide SA Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, South Australia.
authors.forename: Caroline
authors.initials: C
authors.lastname: Laforest
authors.forename: Igal
authors.initials: I
authors.lastname: Leibovitch
authors.forename: Dinesh
authors.initials: D
authors.lastname: Selva
authors.forename: John
authors.initials: J
authors.lastname: Crompton
authors.forename: Eric
authors.initials: E
authors.lastname: Haan
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000473:pathology*; D000328:Adult; D002972:Cleft Palate / Q000473:pathology* / Q000601:surgery; D003103:Coloboma / Q000473:pathology*; D019066:Facies; D006801:Humans; D007018:Hypopituitarism / Q000188:drug therapy / Q000473:pathology*; D008297:Male; D017689:Polydactyly / Q000473:pathology*; D013577:Syndrome