Autosomal dominant transmission of the Pallister-Hall syndrome.

doi:10.1016/s0022-3476(05)80392-0

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Article

Autosomal dominant transmission of the Pallister-Hall syndrome.

The Journal of pediatrics - 1 Dec 1993

Topf K F, Kletter G B, Kelch R P, Brunberg J A, Biesecker L G

Abstract excerpt

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 flattene...

Topics

Abnormalities, Multiple
Anus, Imperforate
Child
Chromosome Aberrations
Chromosome Disorders
Humans
Hypospadias
Male
Phenotype
Polydactyly
Syndrome

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