Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance.
A female with the Brown-Vialetto-Van Laere syndrome is described. The patient's father, a paternal uncle, and possibly a paternal first cousin had neurosensory deafness and a paternal aunt had clinical symptoms indicative of the syndrome. This family raises the possibility that the disorder is genetically heterogeneous with autosomal recessive and autosomal dominant forms. Alternatively, it could be caused by a mutant gene on the X chromosome.
Hawkins
S A
SA
Department of Medicine, Queen's University of Belfast.
Nevin
N C
NC
Harding
A E
AE
D000293:Adolescent; D000328:Adult; D002648:Child; D003391:Cranial Nerves / Q000002:abnormalities*; D003638:Deafness / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome