[Show abstract][Hide abstract] ABSTRACT: A large inbred Lebanese pedigree with congenital spastic ataxia, microcephaly, optic atrophy, short stature, speech defect, abnormal osmiophilic pattern of skin vessels, cerebellar atrophy, and severe mental retardation transmitted as an autosomal recessive trait has been studied. None of the children had any evidence of a metabolic disease, and the analysis of respiratory chain complex abnormalities was unremarkable. Only one child had a history of perinatal difficulties. Differential diagnosis and the possibility that this disorder is a hitherto unreported one are discussed.
No preview · Article · Jul 2001 · American Journal of Medical Genetics
[Show abstract][Hide abstract] ABSTRACT: Brown-Vialetto-Van Laere syndrome or pontobulbar palsy with deafness is a rare disorder characterized by bilateral nerve deafness, a variety of cranial nerve disorders usually involving the motor components of the 7th and 9th to 12th cranial nerves, and less commonly an involvement of spinal motor nerves and upper motor neurons. Familial and sporadic cases have been reported. Based on particular evidence, autosomal recessive, autosomal dominant, and X-linked inheritance, as well as autoimmune origin have been considered. We report on a large inbred Lebanese family with four patients of both sexes, strongly suggesting autosomal recessive inheritance.
No preview · Article · Jun 2000 · American Journal of Medical Genetics