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Literature DB >> 4028503

The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome.

Abstract

We have investigated a South African family of Indian stock in which 4 brothers and 2 cousins had a severe form of osteogenesis imperfecta (OI) together with blindness due to hyperplasia of the vitreous, corneal opacity and secondary glaucoma. To the best of our knowledge the syndromic association of OI and ocular problems of this type has not previously been reported, and we believe that this condition is a newly recognised entity. The pedigree is consistent with autosomal recessive inheritance.

Entities: Disease

Mesh：

Year: 1985 PMID： 4028503 DOI： 10.1111/j.1399-0004.1985.tb01220.x

Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438

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Cited

11 in total

1. Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

Authors: Xiaodong Jiao; Valerio Ventruto; Michael T Trese; Barkur S Shastry; J Fielding Hejtmancik
Journal: Am J Hum Genet Date: 2004-09-02 Impact factor: 11.025

2. Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.

Authors: Y Gong; M Vikkula; L Boon; J Liu; P Beighton; R Ramesar; L Peltonen; H Somer; T Hirose; B Dallapiccola; A De Paepe; W Swoboda; B Zabel; A Superti-Furga; B Steinmann; H G Brunner; A Jans; R G Boles; W Adkins; M J van den Boogaard; B R Olsen; M L Warman
Journal: Am J Hum Genet Date: 1996-07 Impact factor: 11.025

3. Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3.

Authors: Muhammad Umair; Bader Alhaddad; Afzal Rafique; Abid Jan; Tobias B Haack; Elisabeth Graf; Asmat Ullah; Farooq Ahmad; Tim M Strom; Thomas Meitinger; Wasim Ahmad
Journal: Pediatr Res Date: 2017-07-26 Impact factor: 3.756

4. Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

Authors: Minrong Ai; Shauna Heeger; Cynthia F Bartels; Deborah K Schelling
Journal: Am J Hum Genet Date: 2005-09-27 Impact factor: 11.025

5. Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.

Authors: Lutz Garbes; Kyungho Kim; Angelika Rieß; Heike Hoyer-Kuhn; Filippo Beleggia; Andrea Bevot; Mi Jeong Kim; Yang Hoon Huh; Hee-Seok Kweon; Ravi Savarirayan; David Amor; Purvi M Kakadia; Tobias Lindig; Karl Oliver Kagan; Jutta Becker; Simeon A Boyadjiev; Bernd Wollnik; Oliver Semler; Stefan K Bohlander; Jinoh Kim; Christian Netzer
Journal: Am J Hum Genet Date: 2015-02-12 Impact factor: 11.025

The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome.

1. Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

2. Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.

3. Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3.

4. Clinical and molecular findings in osteoporosis-pseudoglioma syndrome.

5. Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.

6. Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association.

7. Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies.

8. Osteogenesis imperfecta and primary open angle glaucoma: genotypic analysis of a new phenotypic association.

9. Intravitreal bevacizumab for treatment of choroidal neovascularization associated with osteogenesis imperfecta.

Review 10. Syndromes with congenital brittle bones.