The second report of Knobloch syndrome

E. Czeizel, P. Goblyos, G. Kustos, E. Mester, E. Paraicz

Research output: Contribution to journalArticle

24 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)777-779
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume42
Issue number6
Publication statusPublished - 1992

Fingerprint

Encephalocele
Myopia
Retinal Detachment
Knobloch syndrome

Keywords

  • autosomal recessive
  • Knobloch syndrome
  • occipital encephalocele
  • retinal detachment

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Czeizel, E., Goblyos, P., Kustos, G., Mester, E., & Paraicz, E. (1992). The second report of Knobloch syndrome. American Journal of Medical Genetics, 42(6), 777-779.

The second report of Knobloch syndrome. / Czeizel, E.; Goblyos, P.; Kustos, G.; Mester, E.; Paraicz, E.

In: American Journal of Medical Genetics, Vol. 42, No. 6, 1992, p. 777-779.

Research output: Contribution to journalArticle

Czeizel, E, Goblyos, P, Kustos, G, Mester, E & Paraicz, E 1992, 'The second report of Knobloch syndrome', American Journal of Medical Genetics, vol. 42, no. 6, pp. 777-779.
Czeizel E, Goblyos P, Kustos G, Mester E, Paraicz E. The second report of Knobloch syndrome. American Journal of Medical Genetics. 1992;42(6):777-779.
Czeizel, E. ; Goblyos, P. ; Kustos, G. ; Mester, E. ; Paraicz, E. / The second report of Knobloch syndrome. In: American Journal of Medical Genetics. 1992 ; Vol. 42, No. 6. pp. 777-779.
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