Biomedical subjects

A Halb

Publications and source records attributed to A Halb.

8 recordsLinked to original sources

PubMed1993

Trisomy 9 mosaicism in two girls with multiple congenital malformations and mental retardation.

Two girls with mosaicism for an extra chromosome 9 are reported. Clinical findings included growth and mental retardation, facial dysmorphism, delayed ossification, single flexion crease, gastro-oesophageal reflux in one girl, and ventricular and atrial septal defects in the other patient. These findings are compared to the other previously reported cases of trisomy 9 mosaicism.

Abnormalities, Multiple↗

PubMed1991

[Cerebral MRT in x chromosome linked adrenoleukodystrophy].

Adrenoleukodystrophy (ALD) is a rare lipid storage disease, characterized among other symptoms by a progressive demyelinization of white matter. Changes are well demonstrated by MRT: Leukencephalopathy begins symmetrically in the occipital lobes of the cerebrum and involves furthermore the splenium of the corpus callosum, the nucleus dentatus and the descending tracts. As neurologic signs may precede signs of adrenal insufficiency, MRT may be important to suspect the diagnosis of ALD, which generally is diagnosed by biochemical tests.

Adrenoleukodystrophy↗

PubMed1985