title: Autosomal dominant transmission of the Pallister-Hall syndrome.
abstract: We describe a 9-year-old boy and his 34-year-old father with the Pallister-Hall syndrome. The proband had precocious puberty, imperforate anus, postaxial polydactyly, hypospadias, a hypothalamic mass, and a displaced pituitary gland. The father had polydactyly, a hypothalamic mass, and a flattened pituitary gland. We conclude that the most likely cause of the Pallister-Hall syndrome is a mutation in a gene inherited in an autosomal dominant manner.
authors.affiliation: Department of Human Genetics, University of Michigan Medical Center, Ann Arbor.
authors.forename: K F
authors.initials: KF
authors.lastname: Topf
authors.forename: G B
authors.initials: GB
authors.lastname: Kletter
authors.forename: R P
authors.initials: RP
authors.lastname: Kelch
authors.forename: J A
authors.initials: JA
authors.lastname: Brunberg
authors.forename: L G
authors.initials: LG
authors.lastname: Biesecker
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001006:Anus, Imperforate / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D008297:Male; D010641:Phenotype; D017689:Polydactyly / Q000235:genetics*; D013577:Syndrome