|
|||||
|
|
The second report of Knobloch syndrome |
|
| Authors: | A. E. Czeizel,P. G bly s,G. Kustos,E. Mester,E. Paraicz |
| Affiliation: | A. E. Czeizel,P. Göblyös,G. Kustos,E. Mester,E. Paraicz |
| Abstract: | Two sibs affected with Knobloch syndrome comprising severe visual handicap (high myopia and retinal detachment with other defects), atypical occipital cephalocele, and unusual plantar creases are described. |
| Keywords: | Knobloch syndrome retinal detachment occipital encephalocele autosomal recessive |