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The Autosomal Dominant Syndrome of Progressive Optic Atrophy and Congenital Deafness

โœ Scribed by Kollarits, Carol R.; Pinheiro, Marilyn L.; Swann, Edwin R.; Marcus, Daniel F.; Corrie, W. Stephen


Book ID
126543864
Publisher
Elsevier Science
Year
1979
Tongue
English
Weight
454 KB
Volume
87
Category
Article
ISSN
0002-9394

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Congenital optic atrophy and brachytelep
โœ Hartwell, Elizabeth A. ;Robinson, Luther K. ;Robinson, Lawrence H. ;Aceves, Javi ๐Ÿ“‚ Article ๐Ÿ“… 1988 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 345 KB

Here we report on a prepubertal boy with the Berk-Tabatznik syndrome. Manifestations included short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges. Prognosis was adversely affected by visual and auditory difficulties. The cause of this conditi