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At least 1,189 records · Page 66Linked to original sources
PubMed1992

Relapsing polychondritis--two cases with tracheal stenosis and inner ear involvement.

Relapsing polychondritis is a rare disease which often presents firstly to ear, nose and throat (ENT) departments. Its complications, respiratory, cardiovascular, renal and neurological are life-threatening; thus it is important to recognize the disease and its complications early. Treatment for relapsing polychondritis may have serious side-effects which should be taken into account when managing these patients. We report two young patients with relapsing polychondritis and their treatments; both had severe tracheal stenosis responding in one case to pharmacological and in the other to surgical intervention.

Adolescent↗
PubMed2005

Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development.

We identified homozygous truncating mutations in HOXA1 in three genetically isolated human populations. The resulting phenotype includes horizontal gaze abnormalities, deafness, facial weakness, hypoventilation, vascular malformations of the internal carotid arteries and cardiac outflow tract, mental retardation and autism spectrum disorder. This is the first report to our knowledge of viable homozygous truncating mutations in any human HOX gene and of a mendelian disorder resulting from mutations in a human HOX gene critical for development of the central nervous system.

Autistic Disorder↗