Usher syndrome is a genetic disorder involving the loss of both sight and hearing. The hearing loss generally occurs at birth or shortly thereafter; while a progressive loss of vision due to retinitis ...

If teachers, parents, and students are proactive, education can prepare the student with Usher syndrome for employment and independent living. As with all children, many factors come into play when ...

Metabolic syndrome is a constellation of conditions that together increase the risk of type 2 diabetes, stroke, and cardiovascular problems, including heart attack. The features of metabolic syndrome ...

We are applying these methodologies to study chromatinopathies, namely, diseases caused by mutations in epigenomic regulators. In this regard, published work from our laboratory has focused on the ...

Prader-Willi syndrome (PWS, OMIM176270) is a rare genetic disorder with recognizable dysmorphic features and multisystemic consequences such as endocrine, neurocognitive and metabolic ones. Although ...

Developmental delay/intellectual disability was found in eight patients, all of whom had an MRI: six bilateral and two unilateral. Patient 9–1 with Kabuki syndrome, 22–1 with learning difficulties and ...

A mixed pattern of hair pigmentation, normal hair color mixed with hypopigmented hair, is associated with Cross syndrome (also known as oculocerebral syndrome or hypopigmentation syndrome).

What is Zollinger-Ellison syndrome? Zollinger-Ellison syndrome (ZES) is a rare digestive disorder. If you have ZES, you likely have 1 or more tumors in the first part of the small intestine, the ...

Asperger's syndrome refers to a high-functioning form of autism. Although it was once classified as its own condition, Asperger’s is no longer an official diagnosis in the Diagnostic and ...

Correspondence to Dr Nathalie Auger, University of Montreal Hospital Centre Research Centre, Montreal H2P 1E2, Canada; nathalie.auger{at}inspq.qc.ca Background Patients with heart defects are at risk ...

A focused evaluation of scalp hair should be part of every newborn physical assessment. Although typically completed in the delivery room, it may be useful to re-evaluate the infant after the ...