Literature DB >> 304682

[Syndrome of blue sclerae and keratoglobus (ocular type of Ehlers-Danlos syndrome (author's transl)].

W Behrens-Baumann, H J Gebauer, U Langenbeck.   

Abstract

Two children born on Crete of consanguinous parents presented the following manifestations of the ocular type of Ehlers-Danlos syndrome (EDS): blue sclerae, keratoglobus and rupture of cornea following minor trauma. In cultivated fibroblasts of one of the patients there was no evidence of defective lysine hydroxylation. The possible relation of our case to a recent similar report by Judisch et al. (1976) is discussed. The ocular type of EDS may be genetically heterogenous. Provisionally, we propose for cases with normal lysyl hydroxylation in vitro the term 'type VIII of EDS'.

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Year:  1977        PMID: 304682     DOI: 10.1007/bf00415317

Source DB:  PubMed          Journal:  Albrecht Von Graefes Arch Klin Exp Ophthalmol        ISSN: 0065-6100


  30 in total

1.  BLUE SCLERAS WITH KERATOGLOBUS.

Authors:  W ARKIN
Journal:  Am J Ophthalmol       Date:  1964-10       Impact factor: 5.258

2.  ACUTE KERATOGLOBUS.

Authors:  M GRAYSON
Journal:  Am J Ophthalmol       Date:  1963-08       Impact factor: 5.258

3.  [On the semiology and genetics of keratoglobus (author's transl)].

Authors:  W Hallermann
Journal:  Klin Monbl Augenheilkd       Date:  1975-01       Impact factor: 0.700

4.  [Atypical keratoconus and other progressive corneal ectasies].

Authors:  W Hallermann
Journal:  Klin Monbl Augenheilkd       Date:  1970-02       Impact factor: 0.700

5.  Blue sclerae and keratoconus: key features of a distinct heritable disorder of connective tissue.

Authors:  G Greenfield; R Stein; A Romano; R M Goodman
Journal:  Clin Genet       Date:  1973       Impact factor: 4.438

6.  Blue sclerae with keratoglobus and brittle cornea.

Authors:  N D Gregoratos; C S Bartsocas; K Papas
Journal:  Br J Ophthalmol       Date:  1971-06       Impact factor: 4.638

7.  Corneal thinning syndrome: keratoleptynsis.

Authors:  S Etzine
Journal:  Ophthalmologica       Date:  1969       Impact factor: 3.250

8.  Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen.

Authors:  S M Krane; S R Pinnell; R W Erbe
Journal:  Proc Natl Acad Sci U S A       Date:  1972-10       Impact factor: 11.205

9.  Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta.

Authors:  R P Penttinen; J R Lichtenstein; G R Martin; V A McKusick
Journal:  Proc Natl Acad Sci U S A       Date:  1975-02       Impact factor: 11.205

10.  Patients with Ehlers-Danlos syndrome type IV lack type III collagen.

Authors:  F M Pope; G R Martin; J R Lichtenstein; R Penttinen; B Gerson; D W Rowe; V A McKusick
Journal:  Proc Natl Acad Sci U S A       Date:  1975-04       Impact factor: 11.205

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  3 in total

1.  Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation.

Authors:  P M Royce; B Steinmann; A Vogel; U Steinhorst; A Kohlschuetter
Journal:  Eur J Pediatr       Date:  1990-04       Impact factor: 3.183

2.  Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome).

Authors:  U Ticho; M Ivry; S Merin
Journal:  Br J Ophthalmol       Date:  1980-03       Impact factor: 4.638

3.  [Brittle cornea syndrome type 1 caused by compound heterozygosity of two mutations in the ZNF469 gene].

Authors:  Johannes Menzel-Severing; Ralph Meiller; Cornelia Kraus; Regina Trollmann; Deniz Atalay
Journal:  Ophthalmologe       Date:  2019-08       Impact factor: 1.059

  3 in total

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