论文信息 - Choroideremia, obesity, and congenital deafness.

Choroideremia, obesity, and congenital deafness.

I studied three generations of a family with choroideremia. Affected individuals, all male, had choroideremia, obesity, and congenital deafness. Others, including carriers, were asymptomatic. This family seems to represent a syndrome in which two of the three components (choroideremia and deafness) have been described as isolated X-chromosome-linked disorders.

S Ayazi | S. Ayazi | Shahram Ayazi

[1] G. Omenn,et al. Usher syndrome in four hard-of-hearing siblings. , 1978, Pediatrics.

[2] R. McKay,et al. Choroideremia. Study of a family and literature review. , 1966, Archives of ophthalmology.

[3] K. J. Fritz. Ocular Syndromes, 3rd ed , 1976 .

[4] J. V. D. Bosch. A New Syndrome in Three Generations of a Dutch Family , 1959 .

[5] B. Hallgren,et al. Retinitis pigmentosa combined with congenital deafness; with vestibulo-cerebellar ataxia and mental abnormality in a proportion of cases: A clinical and genetico-statistical study. , 1960, Acta psychiatrica Scandinavica. Supplementum.

[6] C. Mcculloch,et al. A hereditary and clinical study of choroideremia. , 1948, Transactions - American Academy of Ophthalmology and Otolaryngology. American Academy of Ophthalmology and Otolaryngology.

[7] L. Frohman,et al. A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance. , 1976, The American journal of medicine.

[8] S. Refsum. Heredopathia atactica polyneuritiformis. , 1952, The Journal of nervous and mental disease.