Ocular colobomata, polydactyly, cleft palate and panhypopituitarism: a new syndrome.
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.
Laforest
Caroline
C
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.
Leibovitch
Igal
I
Selva
Dinesh
D
Crompton
John
J
Haan
Eric
E
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