Autosomal dominant transmission of the Pallister-Hall syndrome.
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.
Topf
K F
KF
Department of Human Genetics, University of Michigan Medical Center, Ann Arbor.
Kletter
G B
GB
Kelch
R P
RP
Brunberg
J A
JA
Biesecker
L G
LG
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