Congenital optic atrophy and brachytelephalangy: the Berk-Tabatznik syndrome.
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 condition remains unknown.
D003638:Deafness; D005124:Eye Abnormalities; D005385:Fingers / Q000002:abnormalities*; D006130:Growth Disorders; D006801:Humans; D008297:Male; D013577:Syndrome; D014786:Vision Disorders