Imperforate anus, bilateral hydronephrosis, bilateral undescended testes jand pituitary hypoplasia: A variant of Hall-Pallister syndrome or a new syndrome?

S. Cianfarani, S. Vitale, R. Stanhope, B. Boscherini

Research output: Contribution to journalArticle

Abstract

A patient with multiple congenital malformations, including imperforate anus, bilateral cryptorchidism and microphallus, is described. At 4 months of age the infant had generalized convulsions and hypoglycaemia. Bilateral hydronephrosis was diagnosed at 8 months of age. At 10 months he was diagnosed as having panhypopituitarism secondary to anterior pituitary hypoplasia, shown on CT and MRI scans. This clinical picture partially resembles that of Hall-Pallister syndrome. However, the absence of some typical features such as craniofacial and limb abnormalities and, above all, hypothalamic hamartoblastoma, would also suggest the possibility of a new, previously unreported, syndrome.

Original languageEnglish
Pages (from-to)1322-1324
Number of pages3
JournalActa Paediatrica, International Journal of Paediatrics
Volume84
Issue number11
Publication statusPublished - 1995

Keywords

  • Cryptorchidism
  • Hydronephrosis
  • Hypoglycaemia
  • Hypopituitarism
  • Imperoforate anus
  • Micropenis
  • Pituitary hypoplasia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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