title: The second report of Knobloch syndrome.
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.
authors.affiliation: Department of Human Genetics and Teratology, National Institute of Hygiene-WHO Collaborating Centre for the Community Control of Hereditary Diseases, Budapest, Hungary.
authors.forename: A E
authors.initials: AE
authors.lastname: Czeizel
authors.forename: P
authors.initials: P
authors.lastname: Göblyös
authors.forename: G
authors.initials: G
authors.lastname: Kustos
authors.forename: E
authors.initials: E
authors.lastname: Mester
authors.forename: E
authors.initials: E
authors.lastname: Paraicz
mesh_terms: 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