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

L I al Gazali; K Sabrinathan; K G Nair

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

Clin Dysmorphol. 1994 Jan;3(1):55-62.

Authors

L I al Gazali¹, K Sabrinathan, K G Nair

Affiliation

¹ Department of Paediatrics, FMHS, UAE University, Al Ain, United Arab Emirates.

PMID: 7515752

Abstract

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

Publication types

Case Reports
Review

MeSH terms

Atrophy
Consanguinity
Developmental Disabilities / diagnostic imaging*
Developmental Disabilities / genetics
Eye Abnormalities / diagnosis*
Eye Abnormalities / genetics
Female
Humans
Infant
Infant, Newborn
Infant, Premature
Male
Osteogenesis Imperfecta / diagnostic imaging*
Osteogenesis Imperfecta / genetics
Radiography
Syndrome