Familial Pallister-Hall syndrome: Case report and hormonal evaluation

I. N. Sills, R. Rapaport, L. P. Robinson, C. Lieber, Yu Shih Ling Yu Shih, M. N.B. Horlick, M. Schwartz, F. Desposito

Research output: Contribution to journalArticlepeer-review

17 Scopus citations

Abstract

Pallister-Hall syndrome is a usually lethal dysplasia/malformation syndrome characterized by hypothalamic hamartoblastoma, hypopituitarism, postaxial polydactyly, craniofacial malformations, imperforate anus, and other malformations. We report a familial case in a male infant and his female sib fetus, suggesting autosomal recessive inheritance, or germinal mosaicism for an autosomal dominant mutation, or a segregating submicroscopic chromosome abnormality. Detailed endocrine evaluation on the surviving infant revealed documented pituitary function, pituitary deficit, and hypothalamic deficiency. We suggest that hypothalamic dysfunction contributes to the hypopituitarism seen in Pallister-Hall syndrome.

Original languageEnglish (US)
Pages (from-to)321-325
Number of pages5
JournalAmerican journal of medical genetics
Volume47
Issue number3
DOIs
StatePublished - 1993
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Keywords

  • autosomal recessive inheritance
  • familial
  • hypopituitarism
  • hypothalamic hamartoblastoma

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