PMID: 8580638Nov 1, 1995Paper

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

Acta Paediatrica
S CianfaraniB Boscherini

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.

References

Jun 1, 1992·American Journal of Medical Genetics·J A KullerM Golabi
Sep 15, 1991·American Journal of Medical Genetics·D P FinniganJ E Haas
Feb 1, 1989·American Journal of Medical Genetics·R F Stratton, M W Parker
Sep 1, 1993·American Journal of Medical Genetics·I N SillsF Desposito

❮ Previous
Next ❯

Citations

Oct 2, 1998·Movement Disorders : Official Journal of the Movement Disorder Society·J W LanceM Vidailhet
May 6, 2009·Best Practice & Research. Clinical Gastroenterology·Shirley Hodgson, Adonis S Ioannides

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

© 2021 Meta ULC. All rights reserved