The second report of Knobloch syndrome.
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.
Czeizel
A E
AE
Department of Human Genetics and Teratology, National Institute of Hygiene-WHO Collaborating Centre for the Community Control of Hereditary Diseases, Budapest, Hungary.
Göblyös
P
P
Kustos
G
G
Mester
E
E
Paraicz
E
E
D004677:Encephalocele / Q000235:genetics; D005128:Eye Diseases / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D009216:Myopia / Q000235:genetics*; D009777:Occipital Bone / Q000002:abnormalities*; D010375:Pedigree; D011247:Pregnancy; D012163:Retinal Detachment / Q000235:genetics*; D013577:Syndrome