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

3 Citations (Scopus)

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

Fingerprint

Pallister-Hall Syndrome
Craniofacial Abnormalities
Imperforate Anus
Cryptorchidism
Hydronephrosis
Hypoglycemia
Seizures
Extremities
Magnetic Resonance Imaging
Combined Pituitary Hormone Deficiency

Keywords

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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

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title = "Imperforate anus, bilateral hydronephrosis, bilateral undescended testes jand pituitary hypoplasia: A variant of Hall-Pallister syndrome or a new syndrome?",
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.",
keywords = "Cryptorchidism, Hydronephrosis, Hypoglycaemia, Hypopituitarism, Imperoforate anus, Micropenis, Pituitary hypoplasia",
author = "S. Cianfarani and S. Vitale and R. Stanhope and B. Boscherini",
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T1 - Imperforate anus, bilateral hydronephrosis, bilateral undescended testes jand pituitary hypoplasia

T2 - A variant of Hall-Pallister syndrome or a new syndrome?

AU - Cianfarani, S.

AU - Vitale, S.

AU - Stanhope, R.

AU - Boscherini, B.

PY - 1995

Y1 - 1995

N2 - 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.

AB - 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.

KW - Cryptorchidism

KW - Hydronephrosis

KW - Hypoglycaemia

KW - Hypopituitarism

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KW - Micropenis

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