Genetic Evaluation and Counseling for Congenital Deafness

Alström Syndrome: Progressive Deafness and Blindness

“…Second, appropriate forms of medical remediation can be provided; and third, social and educational adjustments may compensate for the multiple disabilities. 21 Finally, awareness implies recognition, leading to care, support, and functional improvement. [16][17][18] 1946 PHyA (PAHX) Defect in lipid metabolism; alpha Neurologic disorders: polyneurop-(6q22-24), 17 oxidation deficiency; elevated athy, cerebellar ataxia, anosmia; (10p13), PEX7 phytanic acid sensorineural hearing impairment: (6q21-22) 17 cochlear atrophy versus auditory neuropathy 17,18 usher's syndrome 19 1914 7 mutants recogImpairs organization and Isolated retinitis pigmentosa and nized, and 5 identimaintenance of stereocilia; sensorineural hearing impairment; fied: 14q32, 11q13.5, interferes with function of occasional vestibular dysfunction 11p15.1, 10q21-22, basal membranes (retina 21q21, 10q21-22, and cochlea) 17q25.1…”

“…Second, appropriate forms of medical remediation can be provided; and third, social and educational adjustments may compensate for the multiple disabilities. 21 Finally, awareness implies recognition, leading to care, support, and functional improvement.…”