Literature DB >> 7515752

A syndrome of osteogenesis imperfecta, optic atrophy, retinopathy and severe developmental delay in two sibs of consanguineous parents.

L I al Gazali1, K Sabrinathan, K G Nair.   

Abstract

We report on two sibs of consanguineous parents with osteogenesis imperfecta, wormian bones, optic atrophy, retinopathy, fits and severe psychomotor retardation.

Entities:  

Mesh：

Year:  1994        PMID： 7515752

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  3 in total

1.  The profile of major congenital abnormalities in the United Arab Emirates (UAE) population.

Authors:  L I al-Gazali; A H Dawodu; K Sabarinathan; M Varghese
Journal:  J Med Genet       Date:  1995-01       Impact factor: 6.318

2.  Bilateral papilledema in a child with osteogenesis imperfecta.

Authors:  Selam Yekta Sendul; Cemile Ucgul Atilgan; Semra Tiryaki; Dilek Guven
Journal:  Eye Vis (Lond)       Date:  2016-10-17

Review 3.  Syndromes with congenital brittle bones.

Authors:  Horacio Plotkin
Journal:  BMC Pediatr       Date:  2004-08-31       Impact factor: 2.125
  3 in total

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