The second report of Knobloch syndrome

American Journal of Medical Genetics

Volumn 42, Issue 6, 1992, Pages 777-779

  Czeizel, A E ^a   Goblyos P ^a   Kustos, G ^a   Mester, E ^a   Paraicz, E ^a  

^a FOUNDATION FOR THE COMMUNITY CONTROL OF HEREDITARY DISEASES   (Hungary)

Author keywords

autosomal recessive; Knobloch syndrome; occipital encephalocele; retinal detachment

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; FEMALE; HUMAN; KNOBLOCH SYNDROME; MALE; MENINGOCELE; MYOPIA; PALMAR DERMATOGLYPHICS; PEDIGREE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DETACHMENT; SYNDROME;

EID: 0026562648     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1320420605     Document Type: Article

References (4)

1. Cohen MM, Lemire RJ, Jr, (1982) Syndromewithcephaloceles. Teratol‐ogy 25, 161–175.
2. Czeizel A, Tbrzs E, Kovacs J, SzaW G, Vitez M, Diaz L Garcia (1991) An aetiological study of 6–14‐year‐old children with severe visual handicap in Hungary. Acta Pediat Hung (in press).
3. Knobloch WH, Layer IM (1971) Retinal detachment and encepha‐locele. J Pediat Ophthal 8, 181–184.
4. McKusick VA (1990) “ Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive and X‐Linked Phe‐notypcs,” 9th ed. Baltimore, Johns Hopkins University Press.