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Occipital horn syndrome

Cutis laxa, x-linked
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Occipital horn syndrome" returned 0 free, full-text review articles. First 0 results:
An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.
Last Updated: Apr 05, 2019

Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar "kinky" hair, are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the ...

Vascular complications (splenic and hepatic artery aneurysms) in the occipital horn syndrome: report of a patient and review of the literature.
Last Updated: Nov 24, 2016

We report an 18-year-old boy with occipital horn syndrome who developed aneurysms of the splenic and hepatic arteries. Occipital horn syndrome, also called X-linked cutis laxa or Ehlers-Danlos syndrome (EDS) type IX, is characterised by a skeletal dysplasia which includes occipital ...

Occipital horn syndrome: report of a patient and review of the literature.
Last Updated: Aug 16, 2019

We report an 18-year-old boy with occipital horn syndrome and we review the 20 cases previously published with this syndrome. The distinctive features common to all patients were unusual facial appearance, skeletal abnormalities, chronic diarrhea and genitourinary abnormalities. The ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Occipital horn syndrome" returned 0 free, full-text editorial articles. First 0 results:
No publications were found for this category.
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Occipital horn syndrome" returned 6 free, full-text research articles. First few results:
[Multiple bladder diverticula caused by occipital horn syndrome].
Last Updated: Nov 25, 2016

We report on the case of a child who presented with recurrent, multiple, and voluminous bladder diverticula. Bladder diverticula are defined as a herniation of the mucosa through the bladder muscle or the detrusor. Causes are numerous and diverticula can be classified into primary ...

Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.
Last Updated: Apr 05, 2019

Menkes disease is an X-linked disorder of copper metabolism caused by mutations in the ATP7A gene. Whereas most of the patients exhibit a severe classical form, about 9% of the patients exhibit a milder form of Menkes disease. The mildest form is called occipital horn syndrome (OHS). ...

Effects of disulfiram treatment in patients with Menkes disease and occipital horn syndrome.
Last Updated: Nov 21, 2013

The clinical and biochemical effects of disulfiram were evaluated in three boys with the disorders characterized by copper deficiency due to the defect of ATP7A. Two suffered from Menkes disease (MD) and one from occipital horn syndrome. Disulfiram was orally given, in addition to ...

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6 Free Research Articles 19 Research Articles