Autosomal dominant transmission of the Pallister-Hall syndrome

Kathryn F. Topf, Gad B. Kletter, Robert P. Kelch, James A Brunberg, Leslie G. Biesecker

Research output: Contribution to journalArticle

33 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)943-946
Number of pages4
JournalThe Journal of Pediatrics
Volume123
Issue number6
DOIs
StatePublished - 1993
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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